Grupo raro de distúrbios caracterizados pelo desenvolvimento de crises epilépticas mioclônicas e tônico-clônicas associadas à degeneração progressiva do sistema nervoso.
Introdução
O que você precisa saber de cara
Grupo raro de distúrbios caracterizados pelo desenvolvimento de crises epilépticas mioclônicas e tônico-clônicas associadas à degeneração progressiva do sistema nervoso.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 67 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 175 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
25 genes identificados com associação a esta condição.
Nucleus
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:15250827). Essential for the catalytic activity and assembly of complex I (PubMed:15250827)
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Regulates insulin sensitivity and metabolic homeostasis (PubMed:25738459, PubMed:33468709). Inhibits the folate cycle, thereby reducing de novo purine biosynthesis which leads to the accumulation of the de novo purine synthesis intermediate 5-aminoimidazole-4-carboxamide (AICAR) and the activation of the metabolic regulator 5'-AMP-activated protein kinase (AMPK) (PubMed:25738459). Protects against age-dependent and diet-induced insulin resistance as well as diet-induced obesity (PubMed:25738459)
SecretedMitochondrionNucleus
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death
Endoplasmic reticulum membraneEndoplasmic reticulum-Golgi intermediate compartment membraneEndoplasmic reticulum
Ceroid lipofuscinosis, neuronal, 8
A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane (PubMed:33033404). Lamins provide a framework for the nuclear envelope, bridging the nuclear envelope and chromatin, thereby playing an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics (PubMed:33033404). The structural integrity
Nucleus lamina
Partial acquired lipodystrophy
A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Intellectual disability in some cases. APLD is a sporadic disorder of unknown etiology.
Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA) (PubMed:17977534, PubMed:23530041, PubMed:26887952, PubMed:31916624). N-acylates sphinganine and sphingosine bases to form dihydroceramides and ceramides in de novo synthesis and salvage pathways, respectively (PubMed:17977534, PubMed:23530041, PubMed:24782409, PubMed:26887952, PubMed:31916624). Plays a predominant role in skel
Endoplasmic reticulum membrane
Epilepsy, progressive myoclonic 8
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM8 is an autosomal recessive form characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment.
Probable histone methyltransferase, preferentially acting on 'Lys-9' of histone H3 (By similarity). Involved in the control of steroidogenesis through transcriptional repression of steroidogenesis marker genes such as CYP17A1 and LHCGR (By similarity). Forms with BHLHE22 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation (By similarity). In the retina, it is required for rod bipolar and type 2 OFF-cone bipolar cell survival (By simil
Nucleus
Epilepsy, progressive myoclonic 10
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM10 is an autosomal recessive form characterized by progressive dysarthria, myoclonus, ataxia, cognitive decline, psychosis, dementia and spasticity, with onset in childhood. There is variability between patients.
Directs RNA polymerase II nuclear import
CytoplasmNucleus
Epilepsy, progressive myoclonic 12
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM12 is an autosomal recessive form characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Affected individuals develop cerebellar ataxia associated with progressive cerebral and cerebellar atrophy on brain imaging. Most patients lose ambulation and become wheelchair-bound. Additional more variable features include mild cognitive dysfunction or psychiatric manifestations, such as depression or anxiety.
This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B
CytoplasmNucleus
Epilepsy, progressive myoclonic 1
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM1 is an autosomal recessive form characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop.
Functions as a cell surface repellent for mossy fibers of developing neurons in the hippocampus where it plays a role in axon guidance. May function through the PLXNA4 receptor expressed by mossy cell axons (Microbial infection) Acts as a receptor for P.sordellii toxin TcsL in the in the vascular endothelium
Cell membrane
Epilepsy, progressive myoclonic 11
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM11 is an autosomal dominant form. Clinical features include normal or mildly delayed early development, developmental regression after seizures onset, inability to walk, severely impaired intellectual development, poor or absent speech, spasticity, ataxia, and intention tremor. Brain imaging shows cerebellar atrophy in some patients.
Voltage-gated potassium channel that opens in response to the voltage difference across the membrane and through which potassium ions pass in accordance with their electrochemical gradient (PubMed:25401298, PubMed:35840580). The mechanism is time-dependent and inactivation is slow (By similarity). Plays an important role in the rapid repolarization of fast-firing brain neurons (By similarity). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proport
Cell membraneCell projection, axonPresynaptic cell membrane
Epilepsy, progressive myoclonic 7
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM7 is an autosomal dominant form characterized by myoclonic epilepsy apparent in the first or second decades of life. Cognitive function may decline in some patients.
Acts as a lysosomal receptor for glucosylceramidase (GBA1) targeting (Microbial infection) Acts as a receptor for enterovirus 71
Lysosome membrane
Epilepsy, progressive myoclonic 4, with or without renal failure
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM4 is an autosomal recessive form associated with renal failure in some cases. Cognitive function is preserved.
May be involved in the control of excitability of cortical neurons
Cell membraneCytoplasm, cytosol
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM3 is an autosomal recessive, severe, form with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include intellectual disability, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis.
Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor
Nucleus membraneCytoplasm, cytosol
Epilepsy, progressive myoclonic 1B
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM1B is an autosomal recessive form characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia.
Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network
Golgi apparatus, cis-Golgi network membraneGolgi apparatus membraneEndoplasmic reticulum membrane
Epilepsy, progressive myoclonic 6
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM6 is an autosomal recessive form characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade.
Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin (PubMed:11880376, PubMed:19265707, PubMed:19285087, PubMed:26329378, PubMed:9442076). May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator (Probable)
SecretedCytoplasmic vesicle, secretory vesicle lumenPerikaryon
Encephalopathy, familial, with neuroserpin inclusion bodies
A neurodegenerative disease clinically characterized by dementia. Additional features include intellectual decline, psychic seizures, progressive myoclonic epilepsy, and cerebral atrophy. Histologically, it is characterized by the presence of eosinophilic inclusion bodies (called Collins bodies) throughout the deeper layers of the cerebral cortex, leading to neuronal death.
E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for pro
Endoplasmic reticulumNucleus
Myoclonic epilepsy of Lafora 2
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. MELF2 is an autosomal recessive, severe form characterized by onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, myoclonic jerks, generalized seizures, and often visual hallucination. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. At the cellular level, MELF2 is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle.
Medicamentos e terapias
Mecanismo: Synaptic vesicle glycoprotein 2A modulator
Mecanismo: D2-like dopamine receptor agonist
Variantes genéticas (ClinVar)
198 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3,478 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
66 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Epilepsia, mioclonia progressiva
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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
Ensaios em destaque
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Outros ensaios clínicos
Publicações mais relevantes
Clinical Utility of Genetic Diagnosis in Drug-Resistant Epilepsy: Refining Classification and Guiding Therapy in an Egyptian Cohort.
Recent advances in epilepsy genetics have revolutionized the diagnosis and management of patients. This study was conducted to evaluate the clinical significance of molecular diagnosis in Egyptian patients with pediatric-onset drug-resistant epilepsy (DRE). All patients lacked electro-clinic-radiological concordant lesions and therefore were not candidates for surgical intervention. More than 70% of cases had variable degrees of cognitive impairment, and about 25% had different forms of movement disorders. Exome sequencing was able to unravel potential genetic defects in 40 patients across 31 genes. The study identified 15 novel variants, including those in MYCBP2 and BAZ2B, which were recently linked to genetic epilepsy. Genetic diagnosis refined classification and guided therapy in several patients, particularly those with ion channelopathies, progressive myoclonic epilepsy, infantile convulsions, choreoathetosis syndrome, and glucose transporter Type 1 deficiency. Our findings underscore the importance of genetic testing for patients with DRE, improving clinical classifications beyond electroclinical assessments and supporting better outcomes.
Drug-Resistant Early-Onset Progressive Myoclonic Epilepsy Revealing Lafora Disease: A Case Report.
Lafora disease is a rare, autosomal recessive progressive myoclonic epilepsy characterized by drug-resistant seizures, myoclonus, and cognitive decline. We present the case of a 25-year-old woman with an unusually early onset of epilepsy at three years of age, progressive neurological deterioration, and a positive family history of progressive myoclonic epilepsy. The patient developed multiple seizure types, including generalized tonic-clonic seizures, atonic seizures, and stimulus-sensitive myoclonus, accompanied by progressive cognitive impairment. Electroencephalography (EEG) demonstrated generalized epileptiform discharges with frontocentral predominance and photosensitivity. Brain magnetic resonance imaging (MRI) revealed periventricular and parietal white matter changes with mild white matter reduction, likely related to a perinatal hypoxic-ischemic insult. Despite extensive antiseizure medication polytherapy and vagus nerve stimulation, seizures remained refractory. Although the skin biopsy was negative, the muscle biopsy showed ultrastructural changes consistent with Lafora disease. Genetic testing confirmed a pathogenic mutation in the EPM2B gene, establishing the diagnosis. This case highlights the diagnostic challenges of Lafora disease and the importance of prioritizing genetic testing in early-onset, drug-resistant epilepsy when standard diagnostic evaluations are nondiagnostic.
KCTD7-related progressive myoclonic epilepsy: Clinical and genetic characterization of six Indian patients and review of literature.
Progressive myoclonic epilepsies (PMEs) are severe epileptic encephalopathies characterized by drug-resistant seizures, myoclonus, neuroregression, and ataxia. Biallelic variants in KCTD7 cause a rare autosomal recessive PME (MIM #611726). We retrospectively analysed six unrelated children with genetically confirmed KCTD7-related PME diagnosed at a quaternary referral centre in South India (2018-2025). Clinical features, EEG, SSEP, MRI, and genetic results were reviewed. Variant pathogenicity was assessed per ACMG guidelines. Six patients (3 male, 3 female; median onset 11 months, range 6-18 months) were included. Initial symptoms were seizures (four patients) or developmental delay (two patients), with regression in five patients. Fever-triggered worsening was noted in all patients. Ataxia was a common symptom (five patients). EEG showed generalized or multifocal epileptiform discharges, often posterior-predominant. MRI demonstrated diffuse cerebral/cerebellar atrophy and characteristic thalamic T2 hypo-intensity in three patients. Genetic analysis identified seven variants: five missense and two frame-shift, including three novel variants (p.Arg279Cys, p.Asp115Profs88, and p.Cys71fs*130). The recurrent p.Ala178Val variant was observed in two patients. One patient had epilepsia partialis continua responsive to corticosteroids. This series expands the phenotypic and genotypic spectrum of KCTD7-related PME in India. Key clinical clues include developmental regression, seizures, cortical myoclonus, fever-provoked worsening, posterior-dominant epileptiform discharges, and early ataxia. The study highlights the importance of comprehensive genetic testing for accurate diagnosis, prognostication, and counselling in early-onset epileptic encephalopathies.
First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing.
Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non-Finnish populations. Here, we report the first Japanese case of CLN5 in a 12-year-old girl with progressive myoclonic epilepsy and psychomotor regression. Initial assessments for common metabolic disorders, including GM2 gangliosidosis, were inconclusive. Trio-based genome sequencing (GS) identified a novel homozygous pathogenic variant in CLN5, confirming the diagnosis at 10 years and 6 months of age. Subsequent evaluations revealed progressive cerebral and cerebellar atrophy and vision loss. This case underscores the importance of GS in diagnosing rare neurodegenerative diseases and highlights the clinical spectrum of CLN5, which presents with rapid neurological decline. Expanding diagnostic frameworks with genetic testing is critical for early diagnosis and potential therapeutic interventions in CLN5 and related NCL disorders.
The biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism.
Laforin is the only known glycogen phosphatase. Mutations in the laforin gene lead to the fatal childhood dementia and progressive myoclonic epilepsy known as Lafora disease (LD). A hallmark of LD is aberrant, cytoplasmic, glycogen-like aggregates known as Lafora bodies. Surprisingly, recent reports indicate that overexpression of a phosphatase-deficient laforin mutant, with the catalytic cysteine mutated to serine (LCS), prevented the formation of Lafora bodies in a laforin KO mouse model. This finding led to questions regarding the biological relevance of laforin phosphatase activity and its role in LD etiology. In this study, we defined the in vitro and in vivo effects of the LCS mutation. LCS protein lacks catalytic activity but exhibits significantly higher binding to phosphate and long glucan chains compared with WT laforin. In addition, LCS exhibits altered dynamics via hydrogen-deuterium exchange mass spectrometry and interacts more robustly with its binding partners malin and protein targeting to glycogen. We demonstrate that these altered dynamics result in aberrant retention of the LCS protein in the brain of the LCS knock-in mouse model, compared with laforin levels in WT mice. To examine the metabolic consequences of these biophysical changes, we compared the brain metabolomic phenotypes of LCS mice to WT and laforin KO mice. Furthermore, LCS mice display a distinct and significant global perturbation in metabolism. These results indicate a key signaling role for glycogen phosphorylation in glycogen metabolism, revealing an important biological role for laforin catalytic phosphatase activity.
Publicações recentes
Intersection of Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy Syndrome: ASAH1 Gene.
Epm2b(P71A) and Epm2b(D148N) knock-in mouse models of Lafora disease exhibit distinct and pronounced neurological alterations.
Drug-Resistant Early-Onset Progressive Myoclonic Epilepsy Revealing Lafora Disease: A Case Report.
Clinical Utility of Genetic Diagnosis in Drug-Resistant Epilepsy: Refining Classification and Guiding Therapy in an Egyptian Cohort.
CHD2-related developmental and epileptic encephalopathy: A phenotypic mimic of progressive myoclonic epilepsy.
📚 EuropePMC192 artigos no totalmostrando 195
Drug-Resistant Early-Onset Progressive Myoclonic Epilepsy Revealing Lafora Disease: A Case Report.
CureusClinical Utility of Genetic Diagnosis in Drug-Resistant Epilepsy: Refining Classification and Guiding Therapy in an Egyptian Cohort.
Clinical geneticsCHD2-related developmental and epileptic encephalopathy: A phenotypic mimic of progressive myoclonic epilepsy.
Epileptic disorders : international epilepsy journal with videotapeKCTD7-related progressive myoclonic epilepsy: Clinical and genetic characterization of six Indian patients and review of literature.
SeizureExpanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin.
Frontiers in geneticsFirst Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing.
Clinical case reportsAdeno-Associated Virus-Based Gene Therapy for Lafora Disease in Epm2b-Deficient Mice.
International journal of molecular sciencesThe biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism.
The Journal of biological chemistryCase Report: Compound heterozygous KCTD7 variants in two siblings presenting with myoclonic epilepsy and ataxia.
Frontiers in neuroscienceNovel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.
Brain communicationsLafora disease (NHLRC1) associated with multiple malformations of cortical development: A clinical vignette.
Epileptic disorders : international epilepsy journal with videotapePersistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3.
European journal of medical geneticsEpilepsy in dentatorubral-pallidoluysian atrophy: A systematic review and meta-analysis.
EpilepsiaExploring the role of apolipoprotein ε4 in progressive myoclonic epilepsy type 1.
Epileptic disorders : international epilepsy journal with videotapeIndividual lipid alterations at the origin of neuronal Ceramide Synthase defects.
PLoS geneticsSleep architecture and qEEG patterns in PME type 1 diagnosis.
Epileptic disorders : international epilepsy journal with videotapeSleep and Awake EEG Findings in a Patient With Lafora Disease: From Presymptomatic to Overt Disease Stage.
Neurology. Clinical practiceKCNC1-Related Progressive Myoclonus Epilepsy: A Case Report.
Clinical case reportsA CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.
Movement disorders : official journal of the Movement Disorder SocietyFamilial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice.
EpilepsiaA novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.
Italian journal of pediatricsTotal corpus callosotomy for an adult patient with progressive myoclonic epilepsy associated with dentatorubral-pallidoluysian atrophy: illustrative case.
Journal of neurosurgery. Case lessonsCase report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy.
BMC neurologyApproach to Progressive Myoclonic Epilepsies: Clinical Clues for Genetic Testing.
Journal of child neurologyIdentification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora disease.
Acta epileptologicaGenetic insights into progressive myoclonic epilepsies: A case study of KCTD7 mutation in an Iranian-Azeri-Turkish family.
Epilepsy & behavior reportsAcid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.
Neurology. GeneticsHomozygous loss of function variant in LMNB2 gene causes major brain malformation and perinatal death.
Journal of medical geneticsDelineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB -Related Neurodevelopmental Disorders.
Clinical geneticsModeling and correction of protein conformational disease in iPSC-derived neurons through personalized base editing.
Molecular therapy. Nucleic acidsSpinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants.
HeliyonSialidosis type 1 in a Turkish family: a case report and review of literatures.
Journal of pediatric endocrinology & metabolism : JPEMTwo Cases of Genetically Proven SCARB2-Related Progressive Myoclonic Epilepsy Without Renal Failure: A Report From India.
Journal of movement disordersCase series; NUS1 deletions cause a progressive myoclonic epilepsy with ataxia.
Seizure[Therapeutic perspectives for lysosomal storage disorders caused by acid ceramidase deficiency].
Medecine sciences : M/SUtility of Optical Genome Mapping in Repeat Disorders.
Clinical geneticsVAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial.
BMJ openGenetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.
Frontiers in neurologyA Novel m.1636A > G Variant in Mitochondrial TV Gene Might Cause New Phenotype of Mitochondrial Disease in a 2-Year Old Chinese Boy.
Molecular neurobiologyNext-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.
Epilepsia openSpectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
Neurology. GeneticsAssociation Between Clinical Severity, Neuroimaging, and Electroencephalographic Findings in Children with Subacute Sclerosing Panencephalitis.
Journal of child neurologyDiscovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy.
International journal of genomicsHematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency.
Molecular therapy : the journal of the American Society of Gene TherapyClinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage Behavior.
The Journal of comparative neurologyIdentification of a Novel ASAH1 Gene Mutation in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy.
Iranian journal of child neurologyIslands and Neurology: An Exploration into a Unique Association.
The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatryGene therapy for Lafora disease in the Epm2a-/- mouse model.
Molecular therapy : the journal of the American Society of Gene TherapyMyoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report.
BMC neurologyUnraveling Phenotypic Variability in Action Myoclonus with Renal Failure with SCARB2 Mutation in Siblings.
Movement disorders clinical practiceCeroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy.
European journal of neurology[Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsProgressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.
GenesWhole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.
Epilepsy researchEffect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice.
Epilepsy researchThe Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1.
CellsKCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
EpilepsiaGene replacement therapy for Lafora disease in the Epm2a -/- mouse model.
bioRxiv : the preprint server for biologyFrontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report.
BMC neurologyPathological Deficit of Cystatin B Impairs Synaptic Plasticity in EPM1 Human Cerebral Organoids.
Molecular neurobiologyASAH1 Variants Causing Spinal Muscular Atrophy Phenotype.
Indian journal of pediatricsProgressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.
European journal of medical geneticsFunctional analysis of a novel splice site variant in the ASAH1 gene.
Molecular genetics & genomic medicineGeneration of a human induced pluripotent stem cell line (UEFi004-A) from a patient with progressive myoclonic epilepsy type 1 (EPM1).
Stem cell researchDeep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature.
Epilepsy & behavior reportsPrognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Orphanet journal of rare diseasesThe involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.
Neurobiology of diseaseProgressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal 1H MRS brain metabolic profiles associated with cognitive function.
NeuroImage. ClinicalAssociation of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease.
Frontiers in neurologyFamilial Adult Myoclonic Epilepsy: Clinical and Genetic Approach to an Under-recognized Disease.
Noro psikiyatri arsiviSpinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum.
Italian journal of pediatricsSpinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
Communications biologyCortico-muscular coherence and brain networks in familial adult myoclonic epilepsy and progressive myoclonic epilepsy.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyExome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.
Neurology. GeneticsSpinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy.
eNeurologicalSciEpm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- mice.
Neurobiology of diseaseRhythmic cortical myoclonus in patients with 6Q22.1 deletion.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society[Progressive myoclonic epilepsy in the department of neurology of the University Teaching hospital Point "G"].
Le Mali medicalA novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review.
Frontiers in geneticsAcid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.
BiomoleculesIRF2BPL: A new genotype for progressive myoclonus epilepsies.
EpilepsiaNeurophysiology of Juvenile and Progressive Myoclonic Epilepsy.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyAFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Cerebellum (London, England)Short- and long-interval intracortical inhibition in EPM1 is related to genotype.
EpilepsiaInsights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs.
CellsAdult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report.
Frontiers in neurologyHuman stefin B: from its structure, folding, and aggregation to its function in health and disease.
Frontiers in molecular neuroscienceThe clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.
Annals of clinical and translational neurologyFive patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.
Neuromuscular disorders : NMDEarly Treatment with Metformin Improves Neurological Outcomes in Lafora Disease.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsA Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments.
Child neurology openNeuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand.
Pediatric neurology[Efficacy of zonisamide in Lafora's disease case and brief review of its use in progressive myoclonic epilepsy].
Revista de neurologiaKctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects.
Disease models & mechanismsDNM1L mutation presenting as progressive myoclonic epilepsy associated with acute febrile infection-related epilepsy syndrome.
Epileptic disorders : international epilepsy journal with videotapeLong Latency Reflexes in Clinical Neurology: A Systematic Review.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesTrehalose Treatment in Zebrafish Model of Lafora Disease.
International journal of molecular sciencesAge-Dependent Reduction in the Expression Levels of Genes Involved in Progressive Myoclonus Epilepsy Correlates with Increased Neuroinflammation and Seizure Susceptibility in Mouse Models.
Molecular neurobiologySEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Human molecular geneticsNon-convulsive Status Epilepticus in SEMA6B-Related Progressive Myoclonic Epilepsy: A Case Report With Literature Review.
Frontiers in pediatricsCompound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease.
Clinical neurology and neurosurgeryClinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Orphanet journal of rare diseasesGenotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.
BMC neurologyNovel mutation of EPM2A causes progressive myoclonic epilepsy: a case report.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyHigher order visual dysfunction and myoclonic-atonic seizure: an atypical presentation of CLN6 neuronal ceroid lipofuscinosis.
BMJ case reportsSodium voltage-gated channel alpha subunit 9 mutation in epilepsy.
European review for medical and pharmacological sciencesEpileptic negative myoclonus in herpes simplex virus encephalitis.
Epileptic disorders : international epilepsy journal with videotapeKCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.
Clinical dysmorphologyAdult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS.
Annals of clinical and translational neurologyMajor intra-familial variability in Unverricht-Lundborg disease.
Epileptic disorders : international epilepsy journal with videotape[Neuronal ceroid lipofuscinosis. Type 6 late infantile variant in two compound heterozygous siblings with novel mutations].
Revista de neurologiaAn empirical pipeline for personalized diagnosis of Lafora disease mutations.
iScienceA novel deletion mutation in EPM2A underlies progressive myoclonic epilepsy (Lafora body disease) in a Pakistani family.
Neurology AsiaDRPLA: An unusual disease or an underestimated cause of ataxia in Brazil?
Parkinsonism & related disordersClinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients.
Epilepsy researchWearable monitoring of positive and negative myoclonus in progressive myoclonic epilepsy type 1.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyMyoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions.
Internal medicine (Tokyo, Japan)Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.
Journal of epilepsy researchJuvenile Huntington's disease masquerading as progressive myoclonus epilepsy.
Epilepsy & behavior reportsClinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency.
Journal of medicine and lifeCanine Lafora Disease: An Unstable Repeat Expansion Disorder.
Life (Basel, Switzerland)Miglustat Therapy for SCARB2-Associated Action Myoclonus-Renal Failure Syndrome.
Neurology. GeneticsA diagnosis of progressive myoclonic ataxia guided by blood biomarkers.
Parkinsonism & related disordersProgressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C.
BMJ neurology openA De Novo SEMA6B Variant in a Chinese Patient with Progressive Myoclonic Epilepsy-11 and Review of the Literature.
Journal of molecular neuroscience : MNZonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy.
Annals of clinical and translational neurologyA novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia.
Parkinsonism & related disordersNovel Truncating and Missense Variants in SEMA6B in Patients With Early-Onset Epilepsy.
Frontiers in cell and developmental biologyCompound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
Journal of neurogeneticsPerampanel Improves Cortical Myoclonus and Disability in Progressive Myoclonic Epilepsies: A Case Series and a Systematic Review of the Literature.
Frontiers in neurologyA novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyA Novel Mutation in KCDT7 Gene in an Indian Girl With Progressive Myoclonus Epilepsy.
CureusProgressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.
EpilepsiaMyoclonus epilepsy and ataxia due to potassium channel mutation (MEAK): a cause of progressive myoclonic epilepsy.
Acta neurologica BelgicaComorbid seizure reduction after pallidothalamic tractotomy for movement disorders: Revival of Jinnai's Forel-H-tomy.
Epilepsia openA survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies.
Epilepsia openCompound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report.
European journal of medical geneticsSpinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association.
Journal of neurosciences in rural practiceEpilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy.
Annals of clinical and translational neurologyProgressive Myoclonic Epilepsy'-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation.
Epilepsy & behavior reportsA Case of Lafora Disease Diagnosed by Axillary Skin Biopsy.
Turk patoloji dergisiLafora body disease: a case of progressive myoclonic epilepsy.
BMJ case reportsFBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
EpilepsiaAn inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice.
The Journal of biological chemistryEEG Patterns Orienting to Lafora Disease Diagnosis-A Case Report in Two Beagles.
Frontiers in veterinary scienceEEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review.
Molecular genetics and metabolismLong-term outcomes of two patients with progressive myoclonic epilepsy treated with vagus nerve stimulation therapy.
HeliyonMetreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report.
Italian journal of pediatricsFocus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyMoyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations - A previously unreported association.
Epilepsy & behavior reportsProgressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature.
Epileptic disorders : international epilepsy journal with videotapeASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
Clinical geneticsSensitive quantification of α-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid.
The Journal of biological chemistrySpinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.
American journal of medical genetics. Part AAn elongated tract of polyQ in the carboxyl‑terminus of human α1A calcium channel induces cell apoptosis by nuclear translocation.
Oncology reportsEarly-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1.
SeizureDiscovering candidate imprinted genes and imprinting control regions in the human genome.
BMC genomicsASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Human mutationA novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyDe Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
American journal of human geneticsAcid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.
International journal of molecular sciencesA detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients.
Parkinsonism & related disordersDistortion of the cortical motor map in patients with Unverricht-Lundborg disease: A combined TMS-MRI study.
Epilepsy researchDrug Treatment of Progressive Myoclonic Epilepsy.
Paediatric drugsMedical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report.
MedicineNorth Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia.
NeuroscienceMajor Advances in Brain Glycogen Research: Understanding of the Roles of Glycogen Have Evolved from Emergency Fuel Reserve to Dynamic, Regulated Participant in Diverse Brain Functions.
Advances in neurobiologyRenal Pathological Findings in Action Myoclonus-Renal Failure Syndrome.
NephronThe best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
SeizureCystatin B Involvement in Synapse Physiology of Rodent Brains and Human Cerebral Organoids.
Frontiers in molecular neuroscienceAn Unusual Masquerader of Progressive Myoclonic Epilepsy.
Indian journal of pediatricsA novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran [Corrigendum].
International medical case reports journalSelective deep brain stimulation in the substantia nigra reduces myoclonus in progressive myoclonic epilepsy: a novel observation and short review of the literature.
Epileptic disorders : international epilepsy journal with videotape[Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy].
Zhonghua er ke za zhi = Chinese journal of pediatricsA novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran.
International medical case reports journalProgressive myoclonic epilepsy-associated gene Kctd7 regulates retinal neurovascular patterning and function.
Neurochemistry internationalNeuroimaging-based brain-age prediction in diverse forms of epilepsy: a signature of psychosis and beyond.
Molecular psychiatryTotal Corpus Callosotomy for Medically Refractory Status Epilepticus Due to Progressive Myoclonic Epilepsy: A Clinically Challenging Case.
World neurosurgeryEpileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan.
Epilepsy & behavior : E&BExome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy.
Clinica chimica acta; international journal of clinical chemistryProgressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia.
Movement disorders clinical practiceA 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing.
Journal of human geneticsDiabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance.
Frontiers in pediatrics[Progressive myoclonic epilepsy secondary to Lafora's body disease].
MedicinaLafora Disease Masquerading as Hepatic Dysfunction.
CureusZebrafish acid ceramidase: Expression in Pichia pastoris GS115and biochemical characterization.
International journal of biological macromoleculesProgressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.
Journal of neurologyPathophysiology of corticobasal degeneration: Insights from neurophysiological studies.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaKCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Annals of neurologyExome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting.
Clinical neurology and neurosurgeryUtility of Skin Biopsy in a Case of Progressive Myoclonic Epilepsy: Answer.
The American Journal of dermatopathologyAcid ceramidase deficiency: Farber disease and SMA-PME.
Orphanet journal of rare diseasesLafora disease: from genotype to phenotype.
Journal of geneticsFirst Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea.
Yonsei medical journalSeizure remission and improvement of neurological function in sialidosis with perampanel therapy.
Epilepsy & behavior case reportsAssociações
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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.
- Clinical Utility of Genetic Diagnosis in Drug-Resistant Epilepsy: Refining Classification and Guiding Therapy in an Egyptian Cohort.
- Drug-Resistant Early-Onset Progressive Myoclonic Epilepsy Revealing Lafora Disease: A Case Report.
- KCTD7-related progressive myoclonic epilepsy: Clinical and genetic characterization of six Indian patients and review of literature.
- First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing.
- The biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism.
- Intersection of Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy Syndrome: ASAH1 Gene.
- Epm2b(P71A) and Epm2b(D148N) knock-in mouse models of Lafora disease exhibit distinct and pronounced neurological alterations.
- CHD2-related developmental and epileptic encephalopathy: A phenotypic mimic of progressive myoclonic epilepsy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98261(Orphanet)
- MONDO:0020074(MONDO)
- Epilepsia(PCDT · Ministério da Saúde)
- GARD:7140(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q7248853(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