Raras
Buscar doenças, sintomas, genes...
Megalencefalia unilateral
ORPHA:99802CID-10 · Q04.5CID-11 · LA05.1DOENÇA RARA

A hemimegalencefalia é uma malformação cerebral rara caracterizada pelo crescimento excessivo de todo ou parte de um hemisfério cerebral, muitas vezes com displasia ou disgenesia cortical grave ipsilateral, hipertrofia da substância branca e ventrículo lateral dilatado, apresentando-se na primeira infância com hemiparesia progressiva, retardo psicomotor grave e convulsões intratáveis. A hemimegalencefalia pode ser um achado isolado ou associada a outras síndromes, como síndrome angioosteohipertrófica, síndrome do nevo epidérmico e hipomelanose de Ito. O manejo inclui controle das crises com medicamentos antiepilépticos e hemisferectomia precoce.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A hemimegalencefalia é uma malformação cerebral rara caracterizada pelo crescimento excessivo de todo ou parte de um hemisfério cerebral, muitas vezes com displasia ou disgenesia cortical grave ipsilateral, hipertrofia da substância branca e ventrículo lateral dilatado, apresentando-se na primeira infância com hemiparesia progressiva, retardo psicomotor grave e convulsões intratáveis. A hemimegalencefalia pode ser um achado isolado ou associada a outras síndromes, como síndrome angioosteohipertrófica, síndrome do nevo epidérmico e hipomelanose de Ito. O manejo inclui controle das crises com medicamentos antiepilépticos e hemisferectomia precoce.

Pesquisas ativas
1 ensaio
3 total registrados no ClinicalTrials.gov
Publicações científicas
640 artigos
Último publicado: 2026 Jun

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Infancy
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q04.5
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
11 sintomas
🦴
Ossos e articulações
3 sintomas
❤️
Coração
2 sintomas
👁️
Olhos
1 sintomas
💪
Músculos
1 sintomas

+ 15 sintomas em outras categorias

Características mais comuns

90%prev.
Hiperintensidade da substância branca cerebral na ressonância magnética
Muito frequente (99-80%)
90%prev.
Convulsão
Muito frequente (99-80%)
90%prev.
Anormalidade interictal no EEG
Muito frequente (99-80%)
55%prev.
Assimetria craniana
Frequente (79-30%)
55%prev.
Ventriculomegalia
Frequente (79-30%)
55%prev.
Morfologia anormal do crânio
Frequente (79-30%)
33sintomas
Muito frequente (3)
Frequente (13)
Ocasional (17)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 características clínicas mais associadas, ordenadas por frequência.

Hiperintensidade da substância branca cerebral na ressonância magnéticaHyperintensity of cerebral white matter on MRI
Muito frequente (99-80%)90%
ConvulsãoSeizure
Muito frequente (99-80%)90%
Anormalidade interictal no EEGInterictal EEG abnormality
Muito frequente (99-80%)90%
Assimetria cranianaCranial asymmetry
Frequente (79-30%)55%
VentriculomegaliaVentriculomegaly
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico640PubMed
Últimos 10 anos200publicações
Pico202141 papers
Linha do tempo
2026Hoje · 2026🧪 2015Primeiro ensaio clínico📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

3 genes identificados com associação a esta condição. Padrão de herança: Not applicable.

AKT3RAC-gamma serine/threonine-protein kinaseDisease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

AKT3 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT3 is the least studied AKT isoform. It plays an impo

LOCALIZAÇÃO

NucleusCytoplasmMembrane

VIAS BIOLÓGICAS (5)
CD28 dependent PI3K/Akt signalingVEGFR2 mediated vascular permeabilityPIP3 activates AKT signalingNegative regulation of the PI3K/AKT networkG beta:gamma signalling through PI3Kgamma
OUTRAS DOENÇAS (4)
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2obsolete cerebral malformationhemimegalencephalymegalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
HGNC:393UniProt:Q9Y243
MTORSerine/threonine-protein kinase mTORDisease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

Serine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals (PubMed:12087098, PubMed:12150925, PubMed:12150926, PubMed:12231510, PubMed:12718876, PubMed:14651849, PubMed:15268862, PubMed:15467718, PubMed:15545625, PubMed:15718470, PubMed:18497260, PubMed:18762023, PubMed:18925875, PubMed:20516213, PubMed:20537536, PubMed:21659604, PubMed:23429703, PubMed:23429704, PubMed:257

LOCALIZAÇÃO

Lysosome membraneEndoplasmic reticulum membraneGolgi apparatus membraneCell membraneMitochondrion outer membraneCytoplasmNucleusNucleus, PML bodyMicrosome membraneCytoplasmic vesicle, phagosome

VIAS BIOLÓGICAS (10)
MacroautophagyEnergy dependent regulation of mTOR by LKB1-AMPKmTORC1-mediated signallingRegulation of PTEN gene transcriptionMTOR signalling
MECANISMO DE DOENÇA

Smith-Kingsmore syndrome

An autosomal dominant syndrome characterized by intellectual disability, macrocephaly, seizures, umbilical hernia, and facial dysmorphic features.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
35.5 TPM
Cerebelo
27.1 TPM
Cérebro - Hemisfério cerebelar
26.0 TPM
Útero
20.1 TPM
Nervo tibial
19.8 TPM
OUTRAS DOENÇAS (7)
isolated focal cortical dysplasia type IImacrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeobsolete cerebral malformationovergrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
HGNC:3942UniProt:P42345
PIK3CAPhosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoformDisease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:23936502, PubMed:28676499). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396, PubMed:28676499). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1,

LOCALIZAÇÃO

VIAS BIOLÓGICAS (10)
Signaling by LTK in cancerNephrin family interactionsIRS-mediated signallingTie2 SignalingDAP12 signaling
EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
23.2 TPM
Linfócitos
22.4 TPM
Nervo tibial
21.4 TPM
Tecido adiposo
20.5 TPM
Fibroblastos
20.5 TPM
OUTRAS DOENÇAS (28)
seborrheic keratosismegalodactylyovarian cancerhepatocellular carcinoma
HGNC:8975UniProt:P42336

Variantes genéticas (ClinVar)

717 variantes patogênicas registradas no ClinVar.

🧬 PIK3CA: NM_006218.4(PIK3CA):c.1687G>A (p.Glu563Lys) ()
🧬 PIK3CA: NM_006218.4(PIK3CA):c.2688dup (p.Phe897fs) ()
🧬 PIK3CA: GRCh37/hg19 3q22.1-29(chr3:132561657-197851986)x3 ()
🧬 PIK3CA: NM_006218.4(PIK3CA):c.25G>C (p.Glu9Gln) ()
🧬 PIK3CA: NM_006218.4(PIK3CA):c.1375A>G (p.Ile459Val) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 8 variantes classificadas pelo ClinVar.

6
2
Patogênica (75.0%)
VUS (25.0%)
VARIANTES MAIS SIGNIFICATIVAS
PTEN: NM_000314.8(PTEN):c.1110_1111dup (p.Asp371fs) [Pathogenic]
PTEN: NM_000314.8(PTEN):c.255_262delinsC (p.Ala86fs) [Pathogenic]
RHEB: NM_005614.4(RHEB):c.119A>T (p.Glu40Val) [Likely pathogenic]
ACSM2A: maternal UPD(16p) [Pathogenic]
MTOR: NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg) [Pathogenic]

Vias biológicas (Reactome)

64 vias biológicas associadas aos genes desta condição.

Activation of BAD and translocation to mitochondria PIP3 activates AKT signaling Downregulation of ERBB2:ERBB3 signaling AKT phosphorylates targets in the cytosol AKT phosphorylates targets in the nucleus Negative regulation of the PI3K/AKT network AKT-mediated inactivation of FOXO1A CD28 dependent PI3K/Akt signaling Co-inhibition by CTLA4 G beta:gamma signalling through PI3Kgamma VEGFR2 mediated vascular permeability TP53 Regulates Metabolic Genes Constitutive Signaling by AKT1 E17K in Cancer Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors Cyclin E associated events during G1/S transition Cyclin A:Cdk2-associated events at S phase entry RAB GEFs exchange GTP for GDP on RABs RUNX2 regulates genes involved in cell migration Regulation of PTEN stability and activity FLT3 Signaling Regulation of localization of FOXO transcription factors Estrogen-dependent nuclear events downstream of ESR-membrane signaling KEAP1-NFE2L2 pathway SARS-CoV-2 targets host intracellular signalling and regulatory pathways Transcriptional and post-translational regulation of MITF-M expression and activity Macroautophagy MTOR signalling mTORC1-mediated signalling HSF1-dependent transactivation Energy dependent regulation of mTOR by LKB1-AMPK Regulation of PTEN gene transcription Amino acids regulate mTORC1 High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells Dengue virus modulates apoptosis PI3K Cascade IRS-mediated signalling GPVI-mediated activation cascade Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants PI3K events in ERBB4 signaling Signaling by SCF-KIT Synthesis of PIPs at the plasma membrane GAB1 signalosome Signaling by cytosolic FGFR1 fusion mutants Downstream signal transduction PI3K events in ERBB2 signaling PI3K/AKT activation Signaling by ALK Downstream TCR signaling Role of phospholipids in phagocytosis Tie2 Signaling Constitutive Signaling by Aberrant PI3K in Cancer DAP12 signaling Role of LAT2/NTAL/LAB on calcium mobilization Nephrin family interactions G alpha (q) signalling events VEGFA-VEGFR2 Pathway Interleukin-3, Interleukin-5 and GM-CSF signaling Constitutive Signaling by EGFRvIII PI-3K cascade:FGFR1 PI-3K cascade:FGFR2 PI-3K cascade:FGFR3 PI-3K cascade:FGFR4

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 21
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Megalencefalia unilateral

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

3 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
253 papers (10 anos)
#1

Functional outcome after vertical parasagittal hemispherotomy in pediatric hemimegalencephaly: Insights from a single case.

Surgical neurology international2026

Parasagittal vertical hemispherotomy (PSVH) is a surgical technique increasingly adopted in epilepsy centers worldwide, providing excellent seizure control in children with drug-resistant epilepsy (DRE) due to unilateral hemispheric abnormalities. We report a case of a 5-year-old girl with DRE secondary to hemimegalencephaly and treated with PSVH. At 11 months postoperatively, the patient achieved complete seizure freedom without major complications. This successful case supports the effectiveness and safety of PSVH in managing DRE caused by unilateral hemispheric lesions and highlights the importance of early surgical intervention in this pediatric population. PSVH achieves reliable seizure control with reduced surgical morbidity and favorable functional outcomes in children with hemispheric epileptogenic disorders.

#2

Hemispherectomy in infants: an institutional experience with 21 patients.

Journal of neurosurgery. Pediatrics2026 Jan 02

Drug-resistant epilepsy (DRE) can arise early in life due to multiple structural abnormalities. In patients with the disorder, seizures can be difficult to control and can significantly impair neurodevelopment. Hemispherectomy is well described as a treatment for refractory hemispheric-onset epilepsy, but its use in infants has been limited due to concerns over surgical risk and physiological tolerance. The aim of this review was to summarize an institutional experience with hemispherectomy in infants to demonstrate the safety and efficacy of the technique. A retrospective chart review was conducted to identify children younger than 1 year of age who had undergone a modified functional hemispherectomy combining elements of both hemispherotomy and anatomical resection to treat DRE at Seattle Children's Hospital from 2000 to 2024. The primary outcome was favorable seizure outcome, defined as Engel class I-II at the 1-year follow-up. Secondary outcomes included perioperative complications, development of postoperative hydrocephalus, need for long-term nutritional supplementation, and changes in the anti-seizure medication burden. Twenty-one children who had undergone functional hemispherectomy were identified, revealing a mean age of 6.2 months (range 0.93-12.3 months) at surgery. The most common etiology was hemimegalencephaly (n = 11, 52%). No serious cardiac, pulmonary, or coagulopathic adverse events occurred, although complications included asymptomatic cerebral venous sinus thrombosis (n = 1, 5%), postoperative hydrocephalus (n = 3, 14%), and electrolyte derangements (n = 1, 5%). The mean hospital stay was 12.5 days (range 6-34 days). Hydrocephalus developed > 12 months postoperatively in 2 (67%) of the 3 patients with this complication. The mean estimated blood loss was 345.8 mL (150-700 mL), and all patients received a transfusion during their surgery with a mean transfusion volume of 450.2 mL (60.4 mL/kg). Seizure outcomes were uniformly assessed at the last clinical follow-up, with a mean follow-up duration of 91.9 months (range 6.1-261.6 months). A favorable seizure outcome (Engel class I-II) was attained in 20 patients (95%), with an Engel class I outcome in 19 patients (90%). An institutional experience demonstrated that functional hemispherectomy is a safe and well-tolerated procedure in infants and offers excellent seizure control outcomes in hemispheric-onset epilepsies. The surgical technique, a focus on minimizing operative blood loss, and multidisciplinary care of these patients are critical elements in ensuring the safety and success of this procedure. Future studies are needed to better characterize long-term functional and neurodevelopmental outcomes in this age group.

#3

Adjunctive cannabidiol in intractable pediatric epilepsy: A retrospective study on tolerability, efficacy, and safety across genetic and nongenetic etiologies.

Medicine2026 Jan 30

This retrospective cohort study evaluated the tolerability, efficacy, and safety of adjunctive cannabidiol (CBD) therapy in pediatric-onset intractable epilepsy across diverse genetic and nongenetic etiologies. Twenty-nine patients aged 6 to 24 years, treated at Korea University Hospitals between April 2019 and May 2024, were included. The median follow-up duration was 14.3 months. Confirmed genetic etiologies included SCN1A-related epilepsy (6.9%); GABRB3-, SCN2A-, KCNT1-, KIF1A-, and COL4A1-related epilepsies (3.4% each); Angelman syndrome and Down syndrome (3.4% each). Presumed genetic etiologies included hemimegalencephaly (3.4%) and cortical dysplasia (6.9%). Acquired causes included hypoxic brain injury (6.9%) and CNS infection (10.3%). In 41.4% of cases, the etiology was unidentified; among them, 58.3% had a history of infantile spasms. At CBD initiation, patients were receiving a median of 5 antiseizure medications, most commonly valproic acid (93.1%), clobazam (82.8%), and levetiracetam (75.9%). The median maintenance dose of CBD was 14.2 mg/kg/d. The retention rate was above 86% at both 12 and 24 months. At 12 months, 79.3% achieved a ≥50% reduction in seizure frequency, and 34.5% achieved a ≥75% reduction without generalized motor seizures. One patient with a GABRB3 variant achieved seizure freedom. Adverse events occurred in 37.9%, most commonly somnolence and lethargy. These were mild and resolved with antiseizure medication adjustments. CBD was discontinued in 3 patients due to pneumonia, lethargy, or seizure aggravation. CBD therapy demonstrated favorable retention, efficacy, and safety profiles in pediatric-onset intractable epilepsy across a spectrum of etiologies.

#4

Improvement in post-hemispherotomy cerebral salt-wasting syndrome following intubation: A case report.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2026 Jan

Cerebral salt-wasting syndrome (CSWS) is characterized by renal sodium loss following intracranial disorders, leading to hyponatremia, reduced extracellular volume, and dehydration. The mechanisms underlying CSWS remain unclear. To date, no reports have described the coexistence of arginine vasopressin deficiency (AVPD), also known as central diabetes insipidus (cDI), and CSWS following hemispherotomy. We report a case of cDI and CSWS occurring after hemispherotomy, in which CSWS improved following intubation. A 7-month-old girl with right hemimegalencephaly and cortical dysplasia underwent hemispherotomy. On postoperative day (POD) 1, AVPD was diagnosed and treated with intravenous AVP. By POD 3, she developed CSWS, characterized by increased urinary sodium excretion, decreased serum sodium levels, dehydration, polyuria, and negative fluid balance. Notably, CSWS improved markedly after intubation on POD 5. However, within one day of extubation, CSWS recurred on POD 8. Her condition gradually improved between POD 8 and POD 14. She is currently clinically stable, with her AVPD well-controlled. Conclusion: AVPD and CSWS can co-occur after hemispherotomy, even without hypothalamic-pituitary involvement. The improvement and recurrence of CSWS associated with intubation and extubation suggest that positive end-expiratory pressure may represent a novel therapeutic strategy for CSWS.

#5

A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain.

Epilepsia2026 Feb

Brain development and subsequent brain function are highly sensitive to genetic mutations, which can result in severe neurodevelopmental malformations. Alterations in PTEN signaling cause a spectrum of developmental malformations and neurological diseases including epilepsy. To date, a detailed understanding of the neuropathological underpinnings of PTEN-associated brain malformations, particularly in fetuses, is missing. We have thus investigated a fetal case of hemimegalencephaly (HME), which is a rare disorder characterized by hemispheric overgrowth, developmental delay, and epileptic seizures. Our assessment of the male fetus includes genetic, radiologic, and histologic features and provides a comprehensive characterization of the cellular alterations in HME together with a genotypic correlation. Genetic analyses uncovered that hemispheric overgrowth was caused by a somatic second hit resulting in biallelic PTEN alteration in the affected brain tissue, although the unaffected hemisphere carried the same PTEN variant as the heterozygous germline variant. Based on the latter, we interpret that the PTEN mutation is not a dominant-negative variant. Within the outer subventricular zone of the enlarged cortex, we found small nodular heterotopias, which can be origins of focal epileptic seizures. Cell type-specific marker stainings revealed that the heterotopias consisted exclusively of SATB2+ glutamatergic projection neurons. Altogether, our analyses and findings contribute to a deeper understanding of the pathomechanisms of a novel PTEN variant driving a severe brain malformation.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC276 artigos no totalmostrando 200

2026

Functional outcome after vertical parasagittal hemispherotomy in pediatric hemimegalencephaly: Insights from a single case.

Surgical neurology international
2026

Adjunctive cannabidiol in intractable pediatric epilepsy: A retrospective study on tolerability, efficacy, and safety across genetic and nongenetic etiologies.

Medicine
2026

Hemispherectomy in infants: an institutional experience with 21 patients.

Journal of neurosurgery. Pediatrics
2026

Improvement in post-hemispherotomy cerebral salt-wasting syndrome following intubation: A case report.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2026

A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain.

Epilepsia
2025

Malformations of cortical development on fetal MRI.

Journal of clinical imaging science
2025

Clinical and radiological evaluation of children with hemimegalencephaly and epilepsy: A single-center study.

Seizure
2025

Transarterial embolization versus hemispherectomy in infants with hemimegalencephaly and drug-resistant epilepsy.

Pediatric research
2025

Associations between fever following hemispherotomy, surgeon experience, and increased CSF protein.

Journal of neurosurgery. Pediatrics
2025

Phase 1 study of ABI-009 (nab-rapamycin) for surgically refractory epilepsy (RaSuRE).

Epilepsia
2025

Electrical Status Epilepticus in Sleep in a Patient with Hemimegalencephaly and Tuberous Sclerosis Complex.

Neurology India
2026

Transarterial embolization for infants under 3 months of age with refractory seizures due to hemimegalencephaly: complication analysis and evolution of treatment strategy.

Journal of neurointerventional surgery
2025

mTORopathies in Epilepsy and Neurodevelopmental Disorders: The Future of Therapeutics and the Role of Gene Editing.

Cells
2025

Uncrossed Cerebellar Diaschisis in Hemimegalencephaly: Evaluated by FDG-PET and Diffusion Tensor Tractography.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2025

Corpus Callosotomy for Atonic Drop Seizures in Bilateral Malformations of Cortical Development: A Systematic Review of Literature.

Cureus
2025

Effectiveness and Safety of High-Dose Oral Phenobarbital in Children With Recurrent and Treatment-Refractory Seizures.

Clinical pediatrics
2025

The fetal neurologist: Strategies to improve training, practice, and clinical care.

Developmental medicine and child neurology
2025

A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies.

Clinical genetics
2025

Cytomegalic parvalbumin neurons in fetal cases of hemimegalencephaly.

Epilepsia
2025

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

Brain communications
2025

Newborn with Refractory Seizures due to Hemimegalencephaly and Tuberous Sclerosis Complex: Case Report and Literature Review.

Neuropediatrics
2025

Lopsided brain: a case of hemispheric dysplasia with cortical malformation in an infant.

Sudanese journal of paediatrics
2025

Epileptiform discharges in the context of self-limited pediatric focal epilepsy (EDSelFEC) in pediatric hemispherotomy patients: Role of white matter abnormalities.

Epileptic disorders : international epilepsy journal with videotape
2024

A case of acute functional hemispherotomy in a young woman with hemimegalencephaly and super-refractory status epilepticus.

Epilepsy &amp; behavior reports
2024

Somatic variant analysis of resected brain tissue in epilepsy surgery patients.

Epilepsia
2024

Facial infiltrating lipomatosis with contralateral hemimegalencephaly.

Seizure
2024

Multi-disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series.

Epilepsia open
2024

[Malformations of cortical development: what's new?].

Medicina
2024

Alterations of the AKT Pathway in Sporadic Human Tumors, Inherited Susceptibility to Cancer, and Overgrowth Syndromes.

Current topics in microbiology and immunology
2025

Transsylvian transopercular peri-central core hemispherotomy for treating epilepsy: anatomy, surgical technique, and clinical outcome.

Journal of neurosurgery
2025

Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.

Brain : a journal of neurology
2024

Hemispheric surgery in children: perisylvian technique.

Neurosurgical focus: Video
2024

Vertical Parasagittal Hemispherotomy.

World neurosurgery
2024

Prenatal diagnosis of hemimegalencephaly via transabdominal and transvaginal ultrasonography: a case description.

Quantitative imaging in medicine and surgery
2024

Prenatal Diagnosis of Hemimegalencephaly Using Radiological Methods: A Case Report.

Cureus
2024

PAEDIATRIC SYMPTOMATIC SEIZURES IN INDIA: UNRAVELLING VARIED ETIOLOGIES AND NEUROIMAGING PATTERNS - A MULTICENTRIC STUDY.

Georgian medical news
2024

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Clinical genetics
2024

Clinical characteristics and surgical management of facial infiltrating lipomatosis: a single center experience.

Head &amp; face medicine
2024

Neuroimaging Findings in Fetal Hemimegalencephaly: Case Study and Review.

Fetal diagnosis and therapy
2024

Interhemispheric Vertical Hemispherotomy: Technique, Outcome, and Pitfalls-A Bicentric Retrospective Case Series of 39 Cases.

Operative neurosurgery (Hagerstown, Md.)
2024

Hemimegalencephaly: A Systematic Comparison of Functional and Anatomic Hemispherectomy for Drug-Resistant Epilepsy.

Neurosurgery
2023

Tandem pediatric neurosurgery: treatment of synostosis and intractable epilepsy. Illustrative case.

Journal of neurosurgery. Case lessons
2024

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

American journal of medical genetics. Part A
2023

mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.

Neurology. Genetics
2024

Hemispheric epilepsy surgery for hemimegalencephaly: The UCLA experience.

Epilepsia
2024

Predicting seizure outcomes and functional outcomes after hemispherotomy: are we any better?

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Contralateral hippocampal sclerosis following functional hemispherectomy in children: A report of three cases.

Seizure
2023

Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.

Pediatric neurology
2023

A novel approach to seizures in neonates.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2023

Neuroectodermal Diseases: A Comparative Case Report Study.

Cureus
2023

Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations.

Orphanet journal of rare diseases
2023

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.

Genes, chromosomes &amp; cancer
2023

Technological and computational approaches to detect somatic mosaicism in epilepsy.

Neurobiology of disease
2023

Vertical Hemispherotomy: Contribution of Advanced Three-Dimensional Modeling for Presurgical Planning and Training.

Journal of clinical medicine
2023

Facial infiltrating lipomatosis with hemimegalencephaly and lymphatic malformations caused by nonhotspot phosphatidylinositol 3-kinase catalytic subunit alpha mutation.

Pediatric dermatology
2023

mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy.

Neurobiology of disease
2023

Congenital Infiltrating Lipomatosis of Face Associated with Ipsilateral Hemimegalencephaly: An Uncommon Cause for Facial Asymmetry in a Child.

Neurology India
2024

Hemispherotomy in an infant with hemimegalencephaly and Ohtahara syndrome.

Wiener medizinische Wochenschrift (1946)
2023

An Initial Experience of Completion Hemispherotomy via Magnetic Resonance-Guided Laser Interstitial Therapy.

Stereotactic and functional neurosurgery
2023

Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2.

Neurology
2023

mTOR-therapy and targeted treatment opportunities in mTOR-related epilepsies associated with cortical malformations.

Revue neurologique
2023

Not surgical technique, but etiology, contralateral MRI, prior surgery, and side of surgery determine seizure outcome after pediatric hemispherotomy.

Epilepsia
2024

A case report of hemimegalencephaly with super-refractory status epilepticus and brain atrophy associated with NPRL3 gene mutation.

Seizure
2022

Hemispherotomy in Infants with Hemimegalencephaly: Long-Term Seizure and Developmental Outcome in Early Treated Patients.

Brain sciences
2022

Prenatal diagnosis and delivery of megalencephaly-capillary malformation syndrome.

BMJ case reports
2023

Somatic mosaicism of the PI3K-AKT-MTOR pathway is associated with hemimegalencephaly in fetal brains.

Neuropathology : official journal of the Japanese Society of Neuropathology
2023

Definitive treatment of seizures due to hemimegalencephaly in neonates and young infants by transarterial embolization: technical considerations for 'endovascular embolic hemispherectomy'.

Journal of neurointerventional surgery
2022

Neuroimaging features of genetic syndromes associated with CNS overgrowth.

Pediatric radiology
2022

Hemimegalencephaly: Evolution From an Atypical Focal Early Appearance on Fetal MRI to More Conventional MR Findings.

Cureus
2022

Refractory neonatal seizures caused by hemimegalencephaly.

BMJ case reports
2022

The changing landscape in epilepsy imaging: Unmasking subtle and unique entities.

Diagnostic and interventional radiology (Ankara, Turkey)
2022

Prevalence and Risk Factors for Pharmacoresistance in Children With Focal Cortical Dysplasia-Related Epilepsy.

Neurology
2022

Functional hemispherotomy for epilepsy in the very young.

Journal of neurosurgery. Pediatrics
2022

A rare case of hemimegalencephaly diagnosed prenatally.

Ginekologia polska
2023

Periodic cycles of seizure clustering and suppression in children with epilepsy strongly suggest focal cortical dysplasia.

Developmental medicine and child neurology
2022

Postmortem Diagnosis of the Proteus Syndrome by Next Generation Sequencing of Affected Brain Tissue.

Academic forensic pathology
2022

Adult Hemimegalencephaly with Migraine as the First Symptom.

Neurology India
2022

Infection-Induced Elevated Plasma Perampanel in a Patient with Hemimegalencephaly.

Case reports in pediatrics
2022

The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.

Cold Spring Harbor molecular case studies
2022

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.

Brain : a journal of neurology
2022

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

Brain : a journal of neurology
2022

Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review.

AJNR. American journal of neuroradiology
2022

Efficacy of Ketamine Use in Refractory Status Epilepticus Associated With Hemimegalencephaly.

Pediatric emergency care
2022

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

International journal of molecular sciences
2022

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib.

The Journal of experimental medicine
2022

Hemispherectomy for hemimegalencephaly in a 6.5-week-old infant with tuberous sclerosis complex.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Neurodevelopmental Findings and Epilepsy in Malformations of Cortical Development.

Turkish archives of pediatrics
2021

Case Report: Hemispherotomy in the First Days of Life to Treat Drug-Resistant Lesional Epilepsy.

Frontiers in neurology
2021

Ictal and Interictal Arterial Spin Labelling (ASL) in Hemimegalencephaly.

Annals of Indian Academy of Neurology
2021

Hemimegalencephaly: A rare congenital malformation of cortical development.

Clinical case reports
2022

Viral expression of constitutively active AKT3 induces CST axonal sprouting and regeneration, but also promotes seizures.

Experimental neurology
2021

[Lessons learnt from 101 hemispheric pediatric epilepsy surgeries part ii: pitfalls and complications].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2022

Magnetic Resonance Imaging of Malformations of Cortical Development-A Comprehensive Review.

World neurosurgery
2021

Vertical hemispherotomy for drug-resistant epilepsy: Toward confirmation of the HOPS study.

Epilepsia
2021

[Lessons learnt from 101 hemispherotomies in children with symptomatic epilepsy. Part I: seizure outcome].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2021

Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome.

Cold Spring Harbor molecular case studies
2021

Epilepsy Surgery: Special Circumstances.

Seminars in pediatric neurology
2021

Functional cognitive and language outcomes after cerebral hemispherectomy for hemimegalencephaly.

Epilepsia
2021

Precision Therapy for Epilepsy Related to Brain Malformations.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
2021

[Genotype and phenotype of children with DEPDC5 gene variants related epilepsy].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2021

Endoscopic Hemispherotomy for Nonatrophic Rasmussen's Encephalopathy.

Neurology India
2021

Role of epilepsy surgery in refractory status epilepticus in children.

Epilepsy research
2021

Postoperative seizure and developmental outcomes of children with hemimegalencephaly and drug-resistant epilepsy.

Seizure
2021

Epilepsy surgery in children under 3 years of age: surgical and developmental outcomes.

Journal of neurosurgery. Pediatrics
2021

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.

Diagnostics (Basel, Switzerland)
2021

Vertical parasagittal hemispherotomy: a case report of postoperative mesio-temporal seizures via amygdalofugal pathway.

Acta neurochirurgica
2022

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2021

Epilepsy surgery in infants up to 3 months of age: Safety, feasibility, and outcomes: A multicenter, multinational study.

Epilepsia
2021

PTEN somatic mutations contribute to spectrum of cerebral overgrowth.

Brain : a journal of neurology
2020

Functional hemispherectomy: can preoperative imaging predict outcome?

Journal of neurosurgery. Pediatrics
2021

The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.

AJNR. American journal of neuroradiology
2021

Epileptic children with hemispheres' asymmetry. Quantitative brain magnetic resonance-based analysis of apparently unaffected hemisphere. Case-control study.

Epilepsy research
2021

Clonally Focused Public and Private T Cells in Resected Brain Tissue From Surgeries to Treat Children With Intractable Seizures.

Frontiers in immunology
2021

Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients.

Annals of neurology
2021

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Genetics in medicine : official journal of the American College of Medical Genetics
2021

Robotic thermocoagulative hemispherotomy: concept, feasibility, outcomes, and safety of a new "bloodless" technique.

Journal of neurosurgery. Pediatrics
2021

Rasmussen's encephalitis with persistent epilepsy in a young man.

Clinical case reports
2021

Neuroimaging and genetic characteristics of malformation of cortical development due to mTOR pathway dysregulation: clues for the epileptogenic lesions and indications for epilepsy surgery.

Expert review of neurotherapeutics
2021

Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.

American journal of medical genetics. Part A
2021

Ganglionic Eminence Anomalies and Coexisting Cerebral Developmental Anomalies on Fetal MR Imaging: Multicenter-Based Review of 60 Cases.

AJNR. American journal of neuroradiology
2020

Phosphorylation of S6 Protein as a Potential Biomarker in Surgically Treated Refractory Epilepsy.

Developmental neuroscience
2021

The Putative Role of mTOR Inhibitors in Non-tuberous Sclerosis Complex-Related Epilepsy.

Frontiers in neurology
2021

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.

Orphanet journal of rare diseases
2021

Neurite Outgrowth Inhibitor (NogoA) Is Upregulated in White Matter Lesions of Complex Cortical Malformations.

Journal of neuropathology and experimental neurology
2021

A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.

Clinical genetics
2021

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.

Annals of clinical and translational neurology
2021

Neuroimaging manifestations of epidermal nevus syndrome.

Quantitative imaging in medicine and surgery
2021

Hemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2021

Delayed transhemispheric propagation of electrographic seizures following functional hemispherectomy.

Clinical neurology and neurosurgery
2021

Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.

Pediatric neurology
2021

Failed Hemispherotomy: Insights from Our Early Experience in 40 Patients.

World neurosurgery
2020

Neurocutaneous melanocytosis (melanosis).

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Hemispherotomy for Epilepsy: The Procedure Evolution and Outcome.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2020

Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay.

Acta neuropathologica
2020

Hemi-Hemimegalencephaly or Posterior Quadrantic Dysplasia, a Rare Cause of Focal Epilepsy in an Otherwise Healthy Young Woman: A Case Report.

Cureus
2020

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.

Orphanet journal of rare diseases
2020

Structural MRI and tract-based spatial statistical analysis of diffusion tensor imaging in children with hemimegalencephaly.

Neuroradiology
2020

Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.

Experimental and molecular pathology
2020

Posterior quadrant disconnection for sub-hemispheric drug refractory epilepsy.

Neurology India
2020

Long-term outcomes after surgery for catastrophic epilepsy in infants: institutional experience and review of the literature.

Journal of neurosurgery. Pediatrics
2020

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.

Epilepsia open
2020

Measure thrice, cut twice: On the benefit of reoperation for failed pediatric epilepsy surgery.

Epilepsy research
2020

Minimizing blood loss in hemispherectomy for hemimegalencephaly in low-weight infants: technical note.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

Transient water-electrolyte disturbance after hemispherotomy in young infants with epileptic encephalopathy.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

A journey through formation and malformations of the neo-cortex.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2019

PI3K/mTOR Pathway Inhibition: Opportunities in Oncology and Rare Genetic Diseases.

International journal of molecular sciences
2019

GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations.

Epilepsia
2019

Widespread frontal lobe cortical dysplasia or partial hemimegalencephaly: a continuum of the spectrum.

Epileptic disorders : international epilepsy journal with videotape
2019

Imaging Findings of Klippel-Trenaunay Syndrome.

Journal of computer assisted tomography
2020

Prenatal diagnosis of hemimegalencephaly revealing tuberous sclerosis complex.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2019

An infant with epilepsy: don't forget the importance of skin examination.

BMJ case reports
2019

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Acta neuropathologica
2019

Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.

American journal of medical genetics. Part C, Seminars in medical genetics
2019

Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.

Human molecular genetics
2019

Case 2: Asymmetrical Frontal Bossing and Refractory Seizures in a Newborn.

NeoReviews
2019

Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.

Epilepsia
2019

Late adult-onset epilepsy in a patient with hemimegalencephaly.

Epileptic disorders : international epilepsy journal with videotape
2019

Physical Growth of the Contralateral Cerebrum is Preserved After Hemispherotomy in Childhood.

Pediatric neurology
2019

New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives.

Journal of anatomy
2019

The Space-Time Continuum of Cortical Dysplasia.

Epilepsy currents
2019

Posterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report.

The neuroradiology journal
2019

Pathological mTOR mutations impact cortical development.

Human molecular genetics
2019

Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience.

Epilepsy &amp; behavior : E&amp;B
2019

The role of somatic mutational events in the pathogenesis of epilepsy.

Current opinion in neurology
2019

Evidence for Innate and Adaptive Immune Responses in a Cohort of Intractable Pediatric Epilepsy Surgery Patients.

Frontiers in immunology
2018

Contribution of Altered Endocannabinoid System to Overactive mTORC1 Signaling in Focal Cortical Dysplasia.

Frontiers in pharmacology
2019

Malformations of Cerebral Cortex Development: Molecules and Mechanisms.

Annual review of pathology
2019

Disrupted cortico-ponto-cerebellar pathway in patients with hemimegalencephaly.

Brain &amp; development
2019

Application of Automated Brain Segmentation and Fiber Tracking in Hemimegalencephaly.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2019

mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report.

Journal of child neurology
2019

Endoscope-assisted (with robotic guidance and using a hybrid technique) interhemispheric transcallosal hemispherotomy: a comparative study with open hemispherotomy to evaluate efficacy, complications, and outcome.

Journal of neurosurgery. Pediatrics
2019

Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.

European journal of medical genetics
2019

Oxidative stress and inflammation in a spectrum of epileptogenic cortical malformations: molecular insights into their interdependence.

Brain pathology (Zurich, Switzerland)
2018

Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.

Italian journal of pediatrics
2018

Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination.

Neuron
2018

Posterior Quadrantic Dysplasia: MRI Diagnosis of a Lesser Known Cause of Pediatric Intractable Epilepsy.

Journal of pediatric neurosciences
2018

Hemimegalencephaly: Seizure Outcome in an Infant after Hemispherectomy.

Journal of pediatric neurosciences
2018

The 2016 Bernard Sachs Lecture: Timing in Morphogenesis and Genetic Gradients During Normal Development and in Malformations of the Nervous System.

Pediatric neurology
2018

Dysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure.

Pediatric radiology
2017

Complex observation of scalp fast (40-150 Hz) oscillations in West syndrome and related disorders with structural brain pathology.

Epilepsia open
2018

Hemimyoclonus: A rare presentation of hemimegalencephaly.

Neurology India
2018

Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.

Epileptic disorders : international epilepsy journal with videotape
2018

Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.

Neuropathology and applied neurobiology
2017

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

Cell reports
2018

Dysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway.

Neuroradiology
2018

Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development.

Journal of child neurology
2018

Periinsular anterior quadrantotomy: technical note.

Journal of neurosurgery. Pediatrics
2017

Unusual Cause of West Syndrome.

Journal of pediatric neurosciences
2018

The importance of prenatal 3-dimensional sonography in a case of a segmental overgrowth syndrome with unclear chromosomal microarray results.

Journal of clinical ultrasound : JCU
2017

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Brain : a journal of neurology
2017

Hemimegalencephaly with intractable epilepsy: A case report.

JPMA. The Journal of the Pakistan Medical Association
2017

A Case of Epilepsia Partialis Continua Due to Linear Nevus Syndrome with Hemimegalencephaly.

Journal of pediatric neurosciences
2018

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.

Clinical genetics
2017

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.

Cold Spring Harbor molecular case studies
2018

What to do in failed hemispherotomy? Our clinical series and review of the literature.

Neurosurgical review
2017

Proteus Syndrome with Neurological Manifestations: A Rare Presentation.

Journal of pediatric neurosciences
2016

Brain Inflammation in an Infant With Hemimegalencephaly, Escalating Seizures, and Epileptic Encephalopathy.

Child neurology open
2017

Differential roles for Akt and mTORC1 in the hypertrophy of Pten mutant neurons, a cellular model of brain overgrowth disorders.

Neuroscience
2017

Pathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay.

The American journal of pathology
2017

Electrophysiological Sequelae of Hemispherotomy in Ipsilateral Human Cortex.

Frontiers in human neuroscience
Ver todos os 276 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Megalencefalia unilateral.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Megalencefalia unilateral

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Functional outcome after vertical parasagittal hemispherotomy in pediatric hemimegalencephaly: Insights from a single case.
    Surgical neurology international· 2026· PMID 41783189mais citado
  2. Hemispherectomy in infants: an institutional experience with 21 patients.
    Journal of neurosurgery. Pediatrics· 2026· PMID 41569724mais citado
  3. Adjunctive cannabidiol in intractable pediatric epilepsy: A retrospective study on tolerability, efficacy, and safety across genetic and nongenetic etiologies.
    Medicine· 2026· PMID 41630268mais citado
  4. Improvement in post-hemispherotomy cerebral salt-wasting syndrome following intubation: A case report.
    Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology· 2026· PMID 41509143mais citado
  5. A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain.
    Epilepsia· 2026· PMID 41489603mais citado
  6. Drug resistant epilepsy driven by RHEB gene variants - Current evidence and a novel report of a paedatric case.
    Epilepsy Behav Rep· 2026· PMID 41940182recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:99802(Orphanet)
  2. MONDO:0020492(MONDO)
  3. GARD:2637(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q40103033(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Megalencefalia unilateral
Compêndio · Raras BR

Megalencefalia unilateral

ORPHA:99802 · MONDO:0020492
Prevalência
Unknown
Herança
Not applicable
CID-10
Q04.5 · Megalencefalia
CID-11
Ensaios
1 ativos
Início
Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0431391
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades