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Variable age-onset epilepsy syndrome
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Introdução

O que você precisa saber de cara

📋

Uma síndrome epiléptica é definida como um conjunto característico de características clínicas e eletroencefalográficas (EEG), frequentemente apoiado por achados etiológicos específicos.

🏥
SUS: Cobertura mínimaScore: 30%
PCDT disponível
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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
86 sintomas
🦴
Ossos e articulações
11 sintomas
💪
Músculos
10 sintomas
👁️
Olhos
9 sintomas
🫘
Rins
6 sintomas
👂
Ouvidos
4 sintomas

+ 86 sintomas em outras categorias

Características mais comuns

Irritabilidade
Comportamento anormal de emoção/afeto
Regressão motora
Anormalidade dos potenciais evocados visuais por padrão
EEG com frequências anormalmente lentas
Perda da fala
225sintomas
Sem dados (225)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 225 características clínicas mais associadas, ordenadas por frequência.

IrritabilidadeIrritability
Comportamento anormal de emoção/afetoAbnormal emotion/affect behavior
Regressão motoraMotor regression
Anormalidade dos potenciais evocados visuais por padrãoAbnormality of pattern visual evoked potentials
EEG com frequências anormalmente lentasEEG with abnormally slow frequencies

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa8
Últimos 10 anos200publicações
Pico202437 papers
Linha do tempo
20202018Hoje · 2026🧪 2022Primeiro ensaio clínico📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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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.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Variable age-onset epilepsy syndrome

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Distribuição por fase
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Seizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical development.

Journal of neurosurgery. Pediatrics2026 Jan 09

Vagus nerve stimulation (VNS) is an established adjunctive therapy for drug-resistant epilepsy (DRE). However, evidence regarding its efficacy in children with structural and nonstructural etiologies of epilepsy remains limited. Herein, the authors aimed to explore the effectiveness of VNS in patients with either etiology. In this retrospective single-center study, authors evaluated children (ages 2-18 years) with DRE due to nonlesional monogenic epilepsies (MEs) or malformations of cortical development (MCDs) who had undergone VNS device implantation between 2008 and 2024 and had ≥ 6 months of follow-up. Patients with tuberous sclerosis complex were excluded. Clinical, genetic, neuroimaging, VNS programming, and outcome data were extracted from medical records. The primary outcome was the responder rate, defined as > 50% seizure reduction from baseline at 6 months, 12 months, and the last follow-up, in the two groups. Of 336 VNS device recipients, 64 children with ME (n = 44) or MCD (n = 20) met the study inclusion criteria. The median follow-up was 3.5-4.0 years. The responder rate in the ME versus MCD group at 6 months, 1 year, and the last follow-up was 38.6% versus 42.1% (p = 0.77), 45.7% versus 44.4% (p = 0.46), and 47.6% versus 63.2% (p = 0.64), respectively. The SCN1A-related Dravet syndrome (SCN1A-DS) subgroup (n = 12) had a responder rate (50.0%) comparable to that of the non-SCN1A-DS ME group (43.7%) at the last follow-up. The frequency of status epilepticus decreased significantly in both groups (p = 0.03). VNS was well tolerated, with mild to moderate side effects reported in < 5% patients. No clinical variable, including age at seizure onset, epilepsy duration, or age at VNS device implantation predicted seizure outcomes. VNS therapy was noted to have a similar responder rate in children with DRE due to MEs or MCDs. Both groups experienced meaningful benefits, with a small proportion of patients experiencing mild side effects.

#2

GLUT1 deficiency syndrome in adulthood: lost in diagnosis.

BMJ neurology open2026

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare genetic disorder impairing cerebral glucose transport, leading to variable neurological symptoms in which adult care remains underexplored. This study aims to characterise adult phenotypes, identify unmet needs and inform a person-centred care model. 32 adults with genetically confirmed GLUT1DS were retrospectively evaluated at two centres in Milan, Italy. Clinical history, diagnostic data, treatment and follow-up information were systematically collected. 19 patients underwent extended assessments including cognitive, neuropsychiatric, sleep, adaptive functioning and quality of life evaluations. Nine also participated in psychological interviews. The cohort included 68.8% female (median age: 32 years). Median age at symptom onset was 2 years, with a diagnostic delay of 18 years. 62% of individuals received a diagnosis in adulthood, with 31% diagnosed only after their child was identified. Except for two cases, all exhibited in their clinical history typical GLUT1DS symptoms that were either unrecognised or too mild to prompt medical attention. Psychosocial health issues were identified in 42% of cases, with emotional disturbances affecting 53% and social life impairments in 42%; physical health concerns in 32%. Diagnostic delay in adults with GLUT1DS is more likely due to limited clinical awareness than to atypical presentations. The most effective model of care for individuals with GLUT1DS might be multidisciplinary involving paediatric and adult neurologists, rehabilitation professionals, clinical psychologists, clinical nutritionists and dietitians to support motor, cognitive and emotional functioning, thereby promoting autonomy, improving quality of life and addressing challenges associated with ketogenic diet adherence.

#3

Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicators.

Brain communications2026

Epilepsy with myoclonic-atonic seizures, formerly myoclonic-astatic epilepsy or Doose syndrome, accounts for 1-2.2% of childhood-onset epilepsies. We investigated genetic determinants, long-term clinical outcomes and prognostic indicators in a large cohort using homogeneous inclusion criteria. We studied 60 patients (26.7% female), mean age 14.5 years (±9.1, range 3.2-41), followed between 1986 and 2024 at two paediatric neurology centres. Average follow-up was 11.7 years. Inclusion criteria were seizure onset between 6 months and 8 years, generalized 2-6 Hz spike-wave discharges and video-EEG documented myoclonic-atonic, myoclonic seizures or both. We analysed clinical, EEG, neuroimaging, neuropsychological and genetic data obtained with next-generation sequencing. We used χ² test, t-test, Log-rank test, Cox regression, population-averaged logistic models and Benjamini-Yekutieli procedure to identify predictors of seizure outcome, intellectual disability and other neurodevelopmental comorbidities. We observed myoclonic-atonic seizures in 55/60 (91.7%), tonic-vibratory seizures in 44/60 (73.4%), absence seizures in 30/60 (50%), myoclonic seizures without post-myoclonic atonia in 25/60 (42%) and non-convulsive status epilepticus in 13/60 (21.7%). A 'stormy' onset occurred in 26/60 patients (43.3%). The most effective drugs were valproate, ethosuximide, benzodiazepines and phenobarbital, used in different combinations, whereas the newer drugs offered no benefit. Long-term outcomes were variable. Thirty-seven patients (61.7%) achieved seizure freedom after 5.1 years on average. We observed drug resistance in 23/60 patients (38.3%) and intellectual disability in 35/60 (58.3%). One adult patient died (mortality rate 1.80/1000-person-years). Attention deficit hyperactivity disorder was the most common comorbidity (24/60, 40%). 'Stormy' onset did not predict a worse prognosis. Global developmental delay at epilepsy onset was associated with drug resistance (P = 0.004, Q = 0.064) and with intellectual disability (P = 0.003, Q = 0.048). We found pathogenic variants in 15/39 (38.5%) patients undergoing next-generation sequencing, including four genes novel for this syndrome (KMT2E; POGZ; SHANK3; YWHAG), with exome sequencing yielding higher diagnostic rates than gene panels. Epilepsy with myoclonic-atonic seizures is a complex syndrome with diverse genetic causes and variable seizure severity and outcomes. Our findings expand its genetic landscape and highlight the prognostic value of prompt overall neurodevelopmental assessment at clinical onset. Whole exome sequencing should be prioritized for early diagnosis and counselling.

#4

Developmental Epileptic Encephalopathy in a Pediatric Patient: Insights from a Novel SULT4A1 Variant and Genetic Challenges.

Journal of child neurology2026 Mar

Developmental epileptic encephalopathy (DEE) in children presents significant diagnostic and management challenges. Advances in whole-exome sequencing (WES) have enabled the identification of rare genetic variants, offering new insights into these complex conditions. Here, we report a 2.5-year-old girl with refractory epilepsy and DEE, in whom WES revealed a novel homozygous SULT4A1 splice-site variant. Although the SULT4A1 variant likely contributed to her condition, the later emergence of motor and speech delay in a sibling with the same mutation suggests variable expressivity or age-dependent onset, rather than incomplete penetrance. The patient partially responded to immunotherapy but continued to experience breakthrough seizures and developmental delays, highlighting the challenges in managing such disorders. This case underscores the importance of genetic testing, functional studies, and genetic counseling in the diagnosis and treatment of rare neurodevelopmental disorders.

#5

Maternal Child-Directed Speech Toward Children With Infantile Spasm or West Syndrome.

International journal of language &amp; communication disorders2026

Maternal child-directed speech (MCDS) plays a critical role in early language and communicative development, yet little is known about how it adapts to neurodevelopmental conditions such as Infantile Spasms/West Syndrome (WS), particularly when co-occurring with intellectual disability (WID) or autism spectrum disorder (WASD). This study investigated how mothers adapt their speech when interacting with children with WS, including those with WID and WASD, compared to age-matched typically developing (TD) children. Forty-four mother-child dyads participated in standardized free play sessions. MCDS was transcribed and analysed using the Child Language Data Exchange System (CHILDES), focusing on lexical diversity, noun, verb, adjective and pragmatic features (e.g., exclamations, directiveness, questions, attention-directing expressions, mental state references). Lexical diversity did not differ significantly between groups. However, clear group differences were found in pragmatic use: mothers of children with WS produced more exclamations, attention-directing expressions, and mental state references, suggesting adaptive strategies to sustain engagement. In the WS and TD groups, MCDS features were significantly associated with children's developmental quotients (DQ), a pattern not observed in the WID or WASD subgroups. Findings suggest that mothers flexibly adjust their communicative input to children's developmental and interactional needs, with unique adaptations evident in WS. These results underscore the importance of tailoring parent-mediated interventions to support communication in children with complex neurodevelopmental contexts. What is already known on this subject Maternal child-directed speech (MCDS) varies across neurodevelopmental conditions. Prior research has documented this variability in children with language delay and developmental language disorder (DLD), including those with co-occurring autism spectrum disorder (ASD). What this paper adds to the existing knowledge To date, no studies have examined MCDS in the context of early-onset epilepsy during infancy, such as Infantile Spasms or West Syndrome (WS), leaving a critical gap in the literature. This study demonstrates that MCDS is shaped by (i) the neurological impact of WS, including alterations in social responsiveness that may occur independently of intellectual disability or ASD; (ii) the child's developmental abilities; and (iii) communicative features associated with ASD. These findings broaden our understanding of how maternal speech adapts to diverse, early-emerging neurodevelopmental disorders. What are the potential or actual clinical implications of this work? This study highlights the complexity of mother-child communication in the context of WS and co-occurring conditions. The findings underscores the need for tailored clinical interventions that consider both caregiver input and the child's communicative and developmental profile. MCDS may potentially serve both as a sensitive indicator of developmental status and as a modifiable element of early intervention. Personalized approaches that build on the child's communicative strengths while addressing specific challenges may support improved language outcomes and broader cognitive development.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Maternal Child-Directed Speech Toward Children With Infantile Spasm or West Syndrome.

International journal of language &amp; communication disorders
2026

Seizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical development.

Journal of neurosurgery. Pediatrics
2026

GLUT1 deficiency syndrome in adulthood: lost in diagnosis.

BMJ neurology open
2026

Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicators.

Brain communications
2026

Deficits in facial emotion recognition in temporal lobe epilepsy: Comprehensive understanding from cognitive neuroscience perspectives.

Journal of psychiatric research
2026

Tocilizumab for super-refractory status epilepticus in children with FIRES: A case series.

Seizure
2026

The impact of resective epilepsy surgery on cognitive estimation in patients with mesial temporal lobe lesions.

Epileptic disorders : international epilepsy journal with videotape
2025

Late onset Lennox-Gastaut syndrome.

Seminars in pediatric neurology
2025

[Temporal lobe seizures of immune and structural etiology].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2026

Theory of mind and alexithymia in patients with cryptogenic frontal lobe epilepsy.

Epilepsy &amp; behavior : E&amp;B
2025

The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants.

Epilepsia open
2025

Understanding Seizures in Malan Syndrome Through Caregiver Reports: A Cross-Sectional Study.

Journal of child neurology
2025

Postictal status and clinical variables in adults with epilepsy.

Arquivos de neuro-psiquiatria
2026

Developmental Epileptic Encephalopathy in a Pediatric Patient: Insights from a Novel SULT4A1 Variant and Genetic Challenges.

Journal of child neurology
2025

Upward eye deviation as a precursor to epileptic spasms: A case successfully treated with early corpus callosotomy without adrenocorticotropic hormone therapy.

Epilepsy &amp; behavior reports
2025

Interictal epileptiform discharges as the most significant confounding factor underlying memory impairment in focal epilepsy.

Epilepsy research
2025

Epilepsy with eyelid myoclonia: A systematic review and meta-analysis.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2025

Association between phenotypes and genotype of developmental and epileptic encephalopathy in next-generation sequencing methods in infants: A scoping review.

The Medical journal of Malaysia
2025

Phenotypic variability and preserved cognition in a family with KCNA2-related developmental epileptic encephalopathy.

Neurogenetics
2025

A new developmental and epileptic encephalopathy: PUM1-neurodevelopmental disorder with epilepsy with myoclonic-atonic seizures.

Seizure
2025

Predicting memory decline from left temporal lobe epilepsy surgery using preoperative fMRI: a multicenter study.

NeuroImage. Clinical
2025

Association of Cortical Atrophy Patterns With Clinical Phenotypes and Histopathological Findings in Patients With Rasmussen Syndrome.

Neurology
2025

Features of cognitive dysfunction in late-onset temporal lobe epilepsy.

Epileptic disorders : international epilepsy journal with videotape
2025

Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy.

Movement disorders : official journal of the Movement Disorder Society
2025

Neuropsychological outcome after surgery of frontal lobe epilepsy in children with good seizure outcome.

Epilepsy &amp; behavior : E&amp;B
2025

Long-term seizure and psychosocial outcomes of patients with ring chromosome 20 syndrome: A cohort study of 47 cases.

Epilepsia
2025

MBOAT7 encephalopathy: Characterizing the neurology and epileptology.

Epilepsia
2025

Factors Associated With Alzheimer's Dementia Diagnosis and Survival in Down Syndrome.

Journal of intellectual disability research : JIDR
2025

Factors Influencing the Response of Patients with Infantile Epileptic Spasms Syndrome to ACTH as Repeated First-Line Therapy.

Neurology and therapy
2025

Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.

Seizure
2025

A De Novo Frameshift Variant in SMC1A Causes Non-Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review.

Molecular genetics &amp; genomic medicine
2025

Differential alterations of structural network in temporal lobe epilepsy with different seizure types are associated with cognitive and psychiatric status.

Epilepsy &amp; behavior : E&amp;B
2025

The comparison of hand grip strength between healthy volunteers and individuals diagnosed with temporal lobe epilepsy.

Epilepsy &amp; behavior : E&amp;B
2024

[Epilepsy definitions, classifications, and epidemiology].

La Revue du praticien
2024

Tonic and tonic-clonic seizures in the first year of life: Insights from electrographic features.

Epilepsy &amp; behavior : E&amp;B
2024

Exploration of epileptic networks in temporal lobe encephaloceles with stereotactic EEG: Electroclinical characteristics and surgical outcomes.

Epilepsia open
2024

Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome: A Systematic Review.

Neurology
2024

Developmental and epileptic encephalopathies.

Nature reviews. Disease primers
2025

Insights into clinical phenotypes and treatment responses in a Small cohort of Taiwanese patients with SCN1A variants: A Preliminary study.

Pediatrics and neonatology
2024

Predictors of drug-resistant epilepsy in childhood epilepsy syndromes: A subgroup analysis from a prospective cohort study.

Epilepsia
2024

Natural history of non-polyglutamine CACNA1A disease in Austria.

Journal of neurology
2024

Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database.

CNS drugs
2024

Responsive neurostimulation in pediatric epilepsy: a systematic review and individual patient meta-analysis supplemented by a single institution case series in 105 aggregated patients.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

[Discontinuation of antiseizure medication in patients with epilepsy].

Der Nervenarzt
2024

Clinical features and underlying etiology of children with Lennox-Gastaut syndrome.

Journal of neurology
2024

MRI-Derived Modeling of Disease Progression Patterns in Patients With Temporal Lobe Epilepsy.

Neurology
2024

Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.

Frontiers in neurology
2024

Short Report: Clinical Features and Epilepsy Monitoring in an Adult With 22q11.2 Deletion Syndrome.

The Neurohospitalist
2024

SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.

International journal of molecular sciences
2024

Detection of short-lasting and ictal spike-and-wave discharges in around-the-ears EEG recordings in children with absence epilepsy.

Epilepsy research
2024

Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.

Seizure
2024

Memory changes in patients with hippocampal sclerosis submitted to surgery to treat mesial temporal lobe epilepsy.

Neurologia
2024

Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil.

Jornal de pediatria
2024

Memory and language risk assessment with Wada test in patients candidates for epilepsy surgery.

Revista de neurologia
2024

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.

Journal of neurodevelopmental disorders
2024

Physical fitness in Indian women with epilepsy on anti-seizure medications and its association with reproductive status, quality of life and stigma: A cross-sectional study.

Epilepsy &amp; behavior : E&amp;B
2024

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.

Genes
2024

Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.

Nature
2024

Elderly onset of MELAS carried an M.3243A >G mutation in a female with deafness and visual deficits: A case report.

Clinical case reports
2024

Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant.

Neurobiology of disease
2024

Decomposed FDG PET-based phenotypic heterogeneity predicting clinical prognosis and decision-making in temporal lobe epilepsy patients.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2024

Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.

Epilepsia
2024

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

Epilepsia
2024

The 2022 International League Against Epilepsy Classification and Definition of Childhood Epilepsy Syndromes: An Update for Pediatricians.

Indian pediatrics
2024

KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.

Epilepsia
2024

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Neurology
2024

Unmet needs in epileptic encephalopathy with spike-and-wave activation in sleep: A systematic review.

Epilepsy research
2024

Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

Molecular genetics &amp; genomic medicine
2023

Predicting Antiseizure Medication Treatment in Children with Rare Tuberous Sclerosis Complex-Related Epilepsy Using Deep Learning.

AJNR. American journal of neuroradiology
2023

Two sides of the same coin: a complex presentation of autosomal dominant tubulointerstitial kidney diseases: a literature review and case reports.

Frontiers in pediatrics
2023

Delineating clinical and developmental outcomes in STXBP1-related disorders.

Brain : a journal of neurology
2023

Vagus nerve stimulation for treating developmental and epileptic encephalopathy in young children.

Frontiers in neurology
2024

Adult-onset Kufs disease.

Practical neurology
2023

Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.

Epilepsy &amp; behavior : E&amp;B
2023

Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation.

Journal of human genetics
2023

Mitochondrial encephalomyopathy.

Handbook of clinical neurology
2023

A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation.

Brain &amp; development
2023

Arousal deregulation in the co-shaping of neuropsychological dysfunction in frontal and mesial temporal lobe epilepsy.

Epilepsy research
2024

Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS).

Epilepsia
2023

Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk.

Frontiers in neurology
2023

Subcortical functional connectivity gradients in temporal lobe epilepsy.

NeuroImage. Clinical
2023

The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant.

PloS one
2023

Role of EEG as a monitoring tool in patients with glucose transporter type I deficiency syndrome (GLUT1-DS) on ketogenic diet.

Epileptic disorders : international epilepsy journal with videotape
2023

The multifactorial etiology of cognitive deficits in epilepsy and the neuropathology of mesial temporal lobe epilepsy beyond hyperphosphorylated tau.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2023

Frontoparietal 18F-FDG-PET hypo-metabolism in Lennox-Gastaut syndrome: Further evidence highlighting the key network.

Epilepsy research
2023

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.

Epilepsia
2023

Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia.

Epilepsia
2023

Heart rate variability modifications in adult patients with early versus late-onset temporal lobe epilepsy: A comparative observational study.

Neurophysiologie clinique = Clinical neurophysiology
2023

Seizure outcomes in children with Sturge-Weber syndrome undergoing epilepsy surgery: An individual participant data meta-analysis.

Seizure
2023

Bilingualism and Structural Network Organization in Temporal Lobe Epilepsy: Resilience in Neurologic Disease.

Neurology
2023

Clinical features of epileptic seizures in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.

Seizure
2024

Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review.

Seizure
2023

Sleep quality and circadian rhythm profile of persons with juvenile myoclonic epilepsy in a tertiary epilepsy center: A case-control study.

Seizure
2022

Interim results of adaptive functioning and neurodevelopment in BUTTERFLY - An observational study of children and adolescents with Dravet syndrome.

Epilepsy &amp; behavior : E&amp;B
2022

The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.

Annals of clinical and translational neurology
2022

Childhood vs. juvenile absence epilepsy: How to make a diagnosis.

Seizure
2022

STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.

European journal of medical genetics
2023

Epilepsy in KBG syndrome.

Developmental medicine and child neurology
2022

Risk factors for comorbid epilepsy in patients with psychogenic non-epileptic seizures. Dataset of a large cohort study.

Data in brief
2022

MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.

Seizure
2022

Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay.

American journal of medical genetics. Part A
2022

Effectiveness and Safety of Oxcarbazepine vs. Levetiracetam as Monotherapy for Infantile Focal Epilepsy: A Longitudinal Cohort Study.

Frontiers in neurology
2023

COVID-19 in Children with West Syndrome: An Ambispective Study.

Indian journal of pediatrics
2022

Idling for Decades: A European Study on Risk Factors Associated with the Delay Before a Narcolepsy Diagnosis.

Nature and science of sleep
2022

Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population-based study.

Epilepsia
2022

International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions.

Epilepsia
2022

Recurrence rates and risk factors for seizure recurrence following antiseizure medication withdrawal in adolescent patients with genetic generalized epilepsy.

Epilepsia open
2022

Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy.

Brain : a journal of neurology
2022

Behavioral phenotypes of pediatric temporal lobe epilepsy.

Epilepsia
2021

Epilepsy With Auditory Features: From Etiology to Treatment.

Frontiers in neurology
2022

Prolonged Video-EEG and Heart Rate Variability can Elucidate Autonomic Dysregulation in Infantile Apneic Seizures.

Pediatric neurology
2021

Clinical and electroencephalogram characteristics and treatment outcomes in children with benign epilepsy and centrotemporal spikes.

World journal of clinical cases
2022

Major intra-familial variability in Unverricht-Lundborg disease.

Epileptic disorders : international epilepsy journal with videotape
2021

Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.

Clinica chimica acta; international journal of clinical chemistry
2021

Clinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients.

Epilepsy research
2021

Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex.

Pediatric neurology
2021

Hip Displacement in MECP2 Disorders: Prevalence and Risk Factors.

Journal of pediatric orthopedics
2021

Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.

Epilepsy research
2021

Hyperactive behaviour in Angelman syndrome: the association with sleep problems and age of epilepsy onset.

Journal of intellectual disability research : JIDR
2021

The molecular and phenotypic spectrum of CLCN4-related epilepsy.

Epilepsia
2021

Characterizing the phenotype of drug-resistant childhood epilepsy associated with leukemia: A case series.

Epilepsy &amp; behavior reports
2021

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.

Seizure
2021

Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome.

Pediatric neurology
2021

Outcomes of seizures, status epilepticus, and EEG findings in critically ill patient with COVID-19.

Epilepsy &amp; behavior : E&amp;B
2021

Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion.

Epilepsia open
2021

Shuddering attacks in children: A retrospective analysis of 19 cases from a single-center in Turkey.

Epilepsy &amp; behavior : E&amp;B
2022

Semantic and episodic memory in adults with temporal lobe epilepsy.

Applied neuropsychology. Adult
2021

The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings.

Seizure
2021

A novel variant of CDK19 causes a severe neurodevelopmental disorder with infantile spasms.

Cold Spring Harbor molecular case studies
2021

Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: A systematic review and meta-analysis.

Seizure
2021

Spike-Wave Index Assessment and Electro-Clinical Correlation in Patients with Encephalopathy Associated with Epileptic State During Slow Sleep (ESES / CSWS); Single-Center Experience.

Epilepsy research
2021

The prevalence of depressive and anxiety symptoms in Polish epilepsy patients - The context of pharmaco-resistance.

Epilepsy &amp; behavior : E&amp;B
2021

Clinical variations of epileptic syndrome associated with PACS2 variant.

Brain &amp; development
2021

Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.

Epilepsia
2020

How predictable is cognitive performance in Brazilian patients with pharmacoresistant mesial temporal lobe epilepsy?

Epilepsy &amp; behavior : E&amp;B
2020

Risk of seizure recurrence from antiepileptic drug withdrawal among seizure-free patients for more than two years.

Epilepsy &amp; behavior : E&amp;B
2020

Dual/double pathology in neurocysticercosis causing drug resistant epilepsy - Chance association or causal?

Epilepsy research
2020

Correlations between interictal extratemporal spikes and clinical features, imaging characteristics, and surgical outcomes in patients with mesial temporal lobe epilepsy.

Seizure
2020

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Epilepsia
2020

Cortex leads the thalamic centromedian nucleus in generalized epileptic discharges in Lennox-Gastaut syndrome.

Epilepsia
2021

Left ventricle end-systolic elastance, arterial-effective elastance, and ventricle-arterial coupling in Epilepsy.

Acta neurologica Scandinavica
2020

Preoperative sensory aura predicts risk for seizure in temporal lobe epilepsy surgery.

Epilepsy &amp; behavior : E&amp;B
2020

How soon should urgent EEG be performed following a first epileptic seizure?

Epilepsy &amp; behavior : E&amp;B
2020

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies.

Frontiers in neurology
2020

Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy.

Cerebral cortex (New York, N.Y. : 1991)
2020

Pitfalls in the diagnosis of Jeavons syndrome: a study of 32 cases and review of the literature.

Epileptic disorders : international epilepsy journal with videotape
2020

Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery?

Developmental medicine and child neurology
2020

Prediction of the recurrence risk in patients with epilepsy after the withdrawal of antiepileptic drugs.

Epilepsy &amp; behavior : E&amp;B
2020

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.

Molecular genetics &amp; genomic medicine
2020

"Sleep Surge": The impact of sleep onset and offset on epileptiform discharges in idiopathic generalized epilepsies.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2020

Cognitive functioning in new-onset juvenile myoclonic epilepsy.

Epilepsy &amp; behavior : E&amp;B
2020

The understanding of mental states and the cognitive phenotype of frontal lobe epilepsy.

Epilepsia
2020

Clinical and Genetic Profile of Autism Spectrum Disorder-Epilepsy (ASD-E) Phenotype: Two Sides of the Same Coin!

Clinical EEG and neuroscience
2020

A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients.

Parkinsonism &amp; related disorders
2019

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Neurology. Genetics
2019

The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy.

Movement disorders : official journal of the Movement Disorder Society
2019

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

Parkinsonism &amp; related disorders
2019

Ketogenic parenteral nutrition in three paediatric patients with epilepsy with migrating focal seizures.

Epileptic disorders : international epilepsy journal with videotape
2019

[Genetically determined epileptic encephalopathies].

Medicina
2019

Naming fMRI predicts the effect of temporal lobe resection on language decline.

Annals of clinical and translational neurology
2019

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.

Epilepsia
2019

Identifying the neural basis of a language-impaired phenotype of temporal lobe epilepsy.

Epilepsia
2019

Psychosis in adults with epilepsy and its relationship to demographic, clinical and treatment variables.

Neurological research
2019

Theory of mind and social competence in children and adolescents with temporal lobe epilepsy.

Neuropsychology
2019

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

Epilepsia
2019

Epilepsy surgery in children: no further threat to theory of mind.

Epileptic disorders : international epilepsy journal with videotape
2019

Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.

Journal of neurology
2019

Patterns of impaired social cognition in children and adolescents with epilepsy: The borders between different epilepsy phenotypes.

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

Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.

Pediatric neurology
2019

Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome.

Brain &amp; development
2019

DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family.

Epileptic disorders : international epilepsy journal with videotape
2019

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Journal of inherited metabolic disease
2019

Psychiatric Assessment in Patients with Mild Temporal Lobe Epilepsy.

Behavioural neurology
2019

A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies.

Neurobiology of disease
2019

Affect-induced reflex seizures (AIRS): A case series based on a systematic literature review.

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

De novo temporal intermittent rhythmic delta activity after laser interstitial thermal therapy for mesial temporal lobe epilepsy predicts poor seizure outcome.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2019

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

Journal of neurology
2019

Neural basis of episodic memory in the intermediate term after medial temporal lobe resection.

Journal of neurosurgery
2019

Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years.

JAMA neurology
2018

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.

Epilepsia
2018

Dentatorubral-pallidoluysian Atrophy: An Update.

Tremor and other hyperkinetic movements (New York, N.Y.)
2018

Nomograms to predict naming decline after temporal lobe surgery in adults with epilepsy.

Neurology
2019

A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.

European journal of medical genetics
2019

Gene expression profiling in a mouse model of Dravet syndrome.

Experimental neurology
2018

Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy.

Pediatric neurology
2018

Electroclinical Pattern and Epilepsy Evolution in an Infant with Miller-Dieker Syndrome.

Journal of pediatric neurosciences
2019

Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors.

European journal of neurology
2018

Test-specific differences in verbal memory assessments used prior to surgery in temporal lobe epilepsy.

Epilepsy &amp; behavior : E&amp;B
2018

Transient microstructural brain anomalies and epileptiform discharges in mice defective for epilepsy and language-related NMDA receptor subunit gene Grin2a.

Epilepsia
2018

Executive and behavioral functioning in pediatric frontal lobe epilepsy.

Epilepsy &amp; behavior : E&amp;B
2018

Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period.

American journal of medical genetics. Part A
2018

Febrile seizures: an overview.

Drugs in context
2019

Abnormal dynamics of functional connectivity density in children with benign epilepsy with centrotemporal spikes.

Brain imaging and behavior
2018

Ictal signs in tuberous sclerosis complex: Clinical and video-EEG features in a large series of recorded seizures.

Epilepsy &amp; behavior : E&amp;B
2018

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.

Epilepsia
2018

Hippocampal subfield segmentation in temporal lobe epilepsy: Relation to outcomes.

Acta neurologica Scandinavica
2018

Cognitive and motor outcomes in children with unilateral Sturge-Weber syndrome: Effect of age at seizure onset and side of brain involvement.

Epilepsy &amp; behavior : E&amp;B
2018

Clinical aspects, neuroimaging, and electroencephalography of 35 cases of hemiconvulsion-hemiplegia syndrome.

Epilepsy &amp; behavior : E&amp;B
2018

Pre-ictal heart rate changes: A systematic review and meta-analysis.

Seizure
2018

Association of white matter diffusion characteristics and cognitive deficits in temporal lobe epilepsy.

Epilepsy &amp; behavior : E&amp;B

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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.

  1. Seizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical development.
    Journal of neurosurgery. Pediatrics· 2026· PMID 41569727mais citado
  2. GLUT1 deficiency syndrome in adulthood: lost in diagnosis.
    BMJ neurology open· 2026· PMID 41561681mais citado
  3. Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicators.
    Brain communications· 2026· PMID 41523187mais citado
  4. Developmental Epileptic Encephalopathy in a Pediatric Patient: Insights from a Novel SULT4A1 Variant and Genetic Challenges.
    Journal of child neurology· 2026· PMID 40879433mais citado
  5. Maternal Child-Directed Speech Toward Children With Infantile Spasm or West Syndrome.
    International journal of language &amp; communication disorders· 2026· PMID 41758466mais citado
  6. Deficits in facial emotion recognition in temporal lobe epilepsy: Comprehensive understanding from cognitive neuroscience perspectives.
    J Psychiatr Res· 2026· PMID 41483726recente
  7. The impact of resective epilepsy surgery on cognitive estimation in patients with mesial temporal lobe lesions.
    Epileptic Disord· 2026· PMID 41396055recente
  8. Late onset Lennox-Gastaut syndrome.
    Semin Pediatr Neurol· 2025· PMID 41371874recente
  9. [Temporal lobe seizures of immune and structural etiology].
    Zh Nevrol Psikhiatr Im S S Korsakova· 2025· PMID 41362984recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:699645(Orphanet)
  2. MONDO:0100619(MONDO)
  3. Epilepsia(PCDT · Ministério da Saúde)
  4. Busca completa no PubMed(PubMed)

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

Variable age-onset epilepsy syndrome
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Variable age-onset epilepsy syndrome

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