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Convulsões focais benignas do adolescente
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Introdução

O que você precisa saber de cara

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Epilepsia Rolândica Benigna ou epilepsia autorresolutiva com espículas centrotemporais é a síndrome epiléptica mais comum na infância. A maioria das crianças superará a síndrome, daí o rótulo de benigna. As crises, por vezes referidas como crises silvianas, começam em torno do sulco central do cérebro.

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SUS: Cobertura mínimaScore: 15%
CID-10: G40.8
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PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Últimos 10 anos200publicações
Pico201927 papers
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Publicações por ano (últimos 10 anos)

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Febrile Seizures in an App-Based Children's Fever Registry: Mixed Methods Study.

JMIR pediatrics and parenting2026 Mar 06

Febrile seizures, although typically benign, can cause significant emotional distress for parents. Their diverse etiological risk factors underscore the need for further research. Ecological momentary assessment (EMA) offers a cost-effective and timely method for real-time data collection. The FeverApp, an EMA-based registry for fever management, enables parents to document febrile seizures as they occur. This study systematically investigates febrile seizure records from the FeverApp registry to assess their characteristics and explore the clinical implications of the findings. By providing real-world data on seizure management, this research demonstrates the potential of app-based EMA in pediatric care. Additionally, it offers insights for targeted interventions and improved febrile seizure management. We used a mixed methods approach. A descriptive qualitative analysis of parental descriptions of 226 seizures belonging to 161 children was conducted. Additionally, a comparative quantitative analysis of group differences was assessed through matched-pair sampling, comparing 114 children. Statistical methods were tailored to the nature of the respective variables, which included prevalence, age, gender, health and febrile history, fever management, temperature, well-being, and parental confidence. Qualitative analyses provided detailed descriptions of seizure symptoms, seizure duration, and seizure management practices. Additionally, the data revealed a high rate of emergency consultations related to febrile seizures. However, there was underreporting of febrile seizures within the FeverApp, with a reported incidence of only 0.4% among febrile children. In a matched sample controlled for gender and age, significant differences were observed between febrile children with and those without febrile seizures in several parameters, including maximum recorded temperature (P<.001), prevalence of chronic diseases (P=.004), parental confidence (P=.01), and frequency of emergency consultations (P<.001). This study offers valuable insights into the characteristics, temporal dynamics, management strategies, and parental responses to febrile seizures in children. Despite the limitation of potential underreporting in an EMA-based registry, the findings highlight the critical importance of parental education and support in managing febrile seizures. Enhancing these areas has the potential to reduce unnecessary medical consultations and improve the overall care of affected children. Furthermore, integrating improvements in the FeverApp's education and documentation system regarding febrile seizures could facilitate better management and support future research efforts.

#2

Is It Psychogenic Non-Epileptic Event, Sleep Related Rhythmical Movement Disorder or Hypermotor Seizure?

Journal of sleep research2026 Feb 09

Distinguishing non-epileptic events from epileptic seizures remains a clinical challenge, particularly when occurring exclusively during sleep. Sleep-related rhythmical movement disorder (SRRMD) is a benign condition typically seen in early childhood, characterised by stereotyped, rhythmical repetitive movements involving large muscle groups, predominantly during Stage II of non-REM sleep. These movements can closely mimic features of sleep parasomnias, hypermotor seizures or psychogenic non-epileptic seizures (PNES), complicating the diagnostic approach. We present a case of an adolescent female with comorbid SRRMD and PNES and a clinical approach to distinguish between them.

#3

Evolution into spike-and-wave activation in sleep in patients with self-limited focal epilepsies.

Seizure2026 Feb

Self-limited focal epilepsies of childhood (SeLFE), while predominantly considered benign, are known to potentially manifest with spike-and-wave activation in sleep (SWAS) in a minority of patients METHODS: The medical records of individuals diagnosed with one of the SeLFE syndromes according to the ILAE 2022 diagnostic criteria, who were followed in our center between 1989-2023, were retrospectively analyzed. At least two awake and sleep EEGs were performed during a minimum 2-year follow-up. SWAS is considered as spike and wave discharges occupying ≥50% of NREM sleep with symmetrical or mildly asymmetrical bilateral or unilateral hemispheric distribution. Among 144 patients with SeLFE, 57(39.6%) were diagnosed with self-limited epilepsy with centrotemporal spikes (SeLECTS); 65(45.1%) with self-limited epilepsy with autonomic seizures (SeLEAS); and 22 (15.3%) with childhood occipital visual epilepsy (COVE). The mean age of seizure onset was 7.6, 5.6, and 8.5 years, respectively. Twelve (8.3%) evolved into SWAS (5 from SeLECTS, 6 from SeLEAS, 1 from COVE). Time elapsed between onset of first seizure and evolution into SWAS ranged from 5.2 to 75 months (mean: 26.8±19.8), 6.2-42.8 months (mean: 20.1±14.7 for patients with SeLECTS; 5.2-75.0 months (mean: 32.7±24.5) with SeLEAS, and 25.0 months with COVE). All except two patients had also cognitive or behavioral regression and were diagnosed as epileptic encephalopathy with spike-wave activation in sleep(EE-SWAS) and one patient was diagnosed with Landau-Kleffner syndrome. The most recent definition of ILAE highlights that SeLFEs are no longer recognized as "benign" epilepsies. Even with a low incidence rate, clinicians should always be cautious about the risk of SWAS development in these syndromes.

#4

Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.

Epilepsia2026 Mar

Variants in GABRG2, encoding the γ2 subunit of the γ-aminobutyric acid type A receptor, are linked to epilepsy phenotypes of varying severity, with gain-of-function (GoF) variants associated with the more severe phenotypes than loss-of-function variants. Here, we provide a comprehensive analysis of the early clinical features, motor, language, and eating abilities, and structural consequences of the recurrent GABRG2 p.(Ala106Thr) GoF variant, aiming to refine genotype-phenotype correlations and deepen the understanding of GoF-associated GABRG2 disorders. Individuals were recruited through international collaborations, literature review, and patient advocacy groups. Clinical data were collected via standardized interviews and physician reports. Functional effects were assessed using electrophysiological recordings. Structural modeling was performed using homology-based approaches to evaluate conformational changes. We collected 23 unrelated individuals harboring the GABRG2 p.(Ala106Thr) variant. Symptoms began with early dysphagia (median onset age = 1 month), hypotonia, seizures (median onset age = 2 months), and hyperkinetic movement disorders (median onset age = 3 months). Epilepsy was present in 91% of the individuals, 71% featuring a developmental and epileptic encephalopathy; 33% of the individuals with epilepsy achieved seizure freedom during the follow-up. All individuals exhibited moderate to severe cognitive/neurodevelopmental impairment, with profound deficits in motor, language, and other domains. Functional analysis confirmed a GoF effect of the p.(Ala106Thr) variant. By contrast, another variant affecting the same residue, p.(Ala106Pro), which is observed in population databases, was functionally characterized as neutral. Structural modeling indicated that the p.(Ala106Thr) variant may enhance receptor gating by facilitating a hydrogen bond between the extracellular and transmembrane domains, a mechanism not observed with the p.(Ala106Pro) variant. Although some individuals exhibited severe developmental impairment without epilepsy, our findings demonstrate that the recurrent GABRG2 p.(Ala106Thr) GoF variant is consistently associated with a severe neurodevelopmental phenotype. Despite its profound clinical impact, in silico tools consistently predict this variant as benign, highlighting a critical gap in current predictive models.

#5

Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC).

Epilepsia2026 Feb

This randomized, double-blind, phase 1b/2a clinical trial was designed to evaluate the safety, tolerability, and efficacy of oral bexicaserin versus placebo for the treatment of seizures in adolescents and adults with developmental and epileptic encephalopathies (DEEs). Eligible participants had a DEE diagnosis, were aged 12-65 years, and were taking 1-4 concomitant antiseizure medications. Randomization to treatment groups (4:1 bexicaserin:placebo) was stratified by type of DEE (Dravet syndrome [DS], Lennox-Gastaut syndrome [LGS], or DEE Other). Following a 28-day baseline period, the treatment period consisted of a 15-day flexible uptitration period (6, 9, or 12 mg three times daily, 5 days each) and a 60-day maintenance period on the highest tolerated dose. Primary end points were safety (adverse events) and change from baseline in countable motor seizure frequency. Forty-three and nine participants were assigned to bexicaserin treatment and placebo, respectively, and received ≥1 dose (safety set); 35 bexicaserin and nine placebo participants completed titration, entered the maintenance period, and had ≥1 seizure measurement during the maintenance period (full analysis set). Twenty-eight of 43 bexicaserin-treated participants (65.1%) and three of nine (33.3%) in the placebo group reported drug-related treatment-emergent adverse events (TEAEs); seven of 43 participants (16.3%) discontinued bexicaserin due to a TEAE during titration and two of 43 (4.7%) during maintenance, most frequently due to somnolence. Median reductions in countable motor seizure frequencies were -59.8% with bexicaserin and -17.4% with placebo; reductions with bexicaserin were observed across DEEs (DS, -74.6%; LGS, -50.8%; DEE Other, -65.5%). The proportion of participants achieving ≥50% reductions during the treatment period (responder analysis) was 60.0% with bexicaserin versus 33.3% with placebo. Bexicaserin was well tolerated and associated with clinically relevant reductions in countable motor seizure frequencies in participants with a variety of DEEs. This novel trial design may expand treatment access to patients previously excluded from clinical trials.

Publicações recentes

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📚 EuropePMC1 artigos no totalmostrando 200

2026

Febrile Seizures in an App-Based Children's Fever Registry: Mixed Methods Study.

JMIR pediatrics and parenting
2026

Is It Psychogenic Non-Epileptic Event, Sleep Related Rhythmical Movement Disorder or Hypermotor Seizure?

Journal of sleep research
2026

Evolution into spike-and-wave activation in sleep in patients with self-limited focal epilepsies.

Seizure
2026

Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.

Epilepsia
2025

Dysembryoplastic neuroepithelial tumours.

JPMA. The Journal of the Pakistan Medical Association
2025

[Analysis of clinical phenotypes and genotypic characteristics in children with epilepsy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Radiologic characterization and clinical management of multinodular and vacuolating neuronal tumor (MVNT): a retrospective institutional cohort study.

Journal of neuro-oncology
2026

Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC).

Epilepsia
2025

Clinical Presentation and Outcome of Five Neonates With Enterovirus Central Nervous System Infection: Contrasting One Kawasaki-Like Case With Cardiac Involvement and Seizures With Four Benign Cases.

Case reports in pediatrics
2025

Development and Adaptive Function in Individuals With SCN2A-Related Disorders.

Neurology
2025

Variants in CSMD2 and CSMD3, genes involved in synaptogenesis, are associated with epilepsies.

Epilepsia
2026

Demographic and Clinical Characteristics of Children with Primary Cardiac Tumors Hospitalized from 1997 to 2019 in the United States.

Pediatric cardiology
2025

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Epilepsia open
2025

Nontumoral Amygdalar Enlargement in Tumoral Epilepsy.

World neurosurgery
2025

Are there any differences between adult-onset cerebellitis and childhood cerebellitis?

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

The comparison of gut microbiota between different types of epilepsy in children.

Microbial cell factories
2024

Evaluation of Thalamic Volume in Patients Diagnosed with BECTS and ESES Using the MRI-Cloud Method.

Nigerian journal of clinical practice
2025

Clinical outcomes of adults with intracranial grade 1 and 2 ganglioglioma.

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

Clinical and genetic spectrum of patients with IRF2BPL syndrome.

Journal of human genetics
2025

Genotype-function-phenotype correlations for SCN1A variants identified by clinical genetic testing.

Annals of clinical and translational neurology
2025

Unusual Causes of Death Due to Constipation.

The American journal of forensic medicine and pathology
2024

Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.

Molecular genetics and genomics : MGG
2024

Myxoid glioneuronal tumor of the septum pellucidum in pediatric patients: a case report and comprehensive review of the literature.

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

Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.

EBioMedicine
2024

Association of LONP1 gene with epilepsy and the sub-regional effect.

Scientific reports
2024

Collapse of an early adolescent girl. Syncope? Simple or sinister?

BMJ case reports
2024

Pediatric Epilepsy Genetic Testing Results and Long-term Seizure Freedom.

Journal of child neurology
2025

Death in a bathtub of an adolescent with neurofibromatosis type 2 exhibiting meningioangiomatosis with white matter involvement.

Forensic science, medicine, and pathology
2024

Optimizing Surgical Outcomes for Intracranial Epidermoid Tumors: A Retrospective Analysis of Clinical Predictors, Surgical Decisions, and Patient Clustering.

World neurosurgery
2024

From brain connectivity to cognitive function: Dissecting the salience network in pediatric BECTS-ESES.

Progress in neuro-psychopharmacology &amp; biological psychiatry
2024

Multicenter retrospective study of patients with PCDH19-related epilepsy: The first Hungarian cohort.

Epileptic disorders : international epilepsy journal with videotape
2024

Practical considerations for the use of fenfluramine to manage patients with Dravet syndrome or Lennox-Gastaut syndrome in clinical practice.

Epilepsia open
2025

ADGRL1 variants: From developmental and epileptic encephalopathy to genetic epilepsy with febrile seizures plus.

Developmental medicine and child neurology
2024

Fibrous Dysplasia of the Parietal Bone with Focal Motor Seizures: A Case Report.

The American journal of case reports
2024

Original Research: Clinical Significance of a Unique Pediatric EEG Configuration: Bi-Frontal Spikes With Simultaneous Bi-Occipital Positivity.

Clinical EEG and neuroscience
2024

A novel RyR2 mutation associated with co-morbid catecholaminergic polymorphic ventricular tachycardia (CPVT) and benign epilepsy with centrotemporal spikes (BECTS).

Journal of electrocardiology
2024

Case report: Febrile infection-related epilepsy syndrome in a 14-year-old girl with multiple organ failure and lethal outcome.

Frontiers in neuroscience
2024

Cognitive development in children with new-onset Rolandic epilepsy and Rolandic discharges without seizures: Focusing on intelligence, visual perception, working memory and the role of parents' education.

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

Pediatric tectal glioma presented with acute hydrocephalus and ventriculomegaly. Two case reports.

Archivos argentinos de pediatria
2023

The Evolving Landscape of Therapeutics for Epilepsy in Tuberous Sclerosis Complex.

Biomedicines
2025

Co-morbid psychiatric disorders in children with arachnoid cyst.

Applied neuropsychology. Child
2023

Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021.

Clinical neurology and neurosurgery
2023

Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.

Neurology
2024

First report of Tunisian patients with CDKL5-related encephalopathy.

Epilepsia open
2023

A reappraisal of interictal EEG characteristics in self-limited epilepsy with autonomic seizures, formerly known as Panayiotopoulos syndrome or early-onset benign occipital epilepsy.

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

Clinicopathological features of dysembryoplastic neuroepithelial tumor: a case series.

Journal of medical case reports
2023

Clinical characteristics of unvaccinated or incompletely vaccinated children with neurological manifestations due to SARS-CoV-2 Omicron infection.

Journal of medical virology
2023

Epilepsy surgery in patients with hypothalamic hamartomas - Population-based two-year and long-term outcomes.

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

Subdural osteoma in an adolescent patient with epilepsy: an unusual case report and literature review.

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

Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.

Cerebral cortex (New York, N.Y. : 1991)
2023

Poor School Academic Performance and Benign Epilepsy with Centro-Temporal Spikes.

Behavioral sciences (Basel, Switzerland)
2023

18 F-SynVesT-1 positron emission tomography in a hypothalamic hamartoma with abnormal uptake.

Epilepsia
2023

Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.

Neurology
2023

Neurological complications associated with influenza in hospitalized children.

Influenza and other respiratory viruses
2024

Roseola Infantum: An Updated Review.

Current pediatric reviews
2022

Neurological and psychiatric risk trajectories after SARS-CoV-2 infection: an analysis of 2-year retrospective cohort studies including 1 284 437 patients.

The lancet. Psychiatry
2022

Temporal Changes in Cholangiocarcinoma Incidence and Mortality in the United States from 2001 to 2017.

The oncologist
2021

SURGICAL AND SEIZURE TREATMENT OUTCOMES IN ADULT DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS: A CASE SERIES.

Acta clinica Croatica
2022

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.

Epilepsia
2022

Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.

JAMA neurology
2022

International consensus on diagnosis and management of Dravet syndrome.

Epilepsia
2022

A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.

Epilepsia
2022

Ictal aphasia in LGI1-related autosomal dominant epilepsy with auditory features.

Practical neurology
2022

Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences.

Neurology
2021

Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability.

Journal of intellectual disability research : JIDR
2021

Clinical and histopathological profile of dysembryoplastic neuroepithelial tumor: An experience from a tertiary care center.

Journal of cancer research and therapeutics
2022

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Brain : a journal of neurology
2021

Defining Dravet syndrome: An essential pre-requisite for precision medicine trials.

Epilepsia
2021

Measuring the effects of sleep on epileptogenicity with multifrequency entropy.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2021

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.

Clinical genetics
2021

Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.

PLoS genetics
2021

Dysembryoplastic neuroepithelial tumors: A single-institutional series with special reference to glutamine synthetase expression.

Annals of diagnostic pathology
2021

Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.

Orphanet journal of rare diseases
2021

Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome.

Frontiers in pediatrics
2021

Coexistence of arteriovenous malformation and meningioma in a single patient: Systematic review and illustrative case.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2021

The attention networks in benign epilepsy with centrotemporal spikes: A long-term follow-up study.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2021

The impact of COVID-19 in Dravet syndrome: A UK survey.

Acta neurologica Scandinavica
2021

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy.

Orphanet journal of rare diseases
2021

Loss of Consciousness in the Young Child.

Pediatric cardiology
2021

Different Aspects on Clinical Presentation of Developmental Venous Anomalies: Are They as Benign as Known? A Single Center Experience.

Clinical neurology and neurosurgery
2021

Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2020

"Benign" temporal lobe epilepsy with hippocampal sclerosis: A forgotten entity?

Epilepsy &amp; behavior reports
2020

Schizophrenic Psychosis Symptoms in a Background of Mild-To-Moderate Carnitine Palmitoyltransferase II Deficiency: A Case Report.

Reports (MDPI)
2020

[Clinicopathological features of polymorphous low-grade neuroepithelial tumor of the young].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2020

Serious Diagnoses for Headaches After ED Discharge.

Pediatrics
2021

Clinical characteristics of KCNQ2 encephalopathy.

Brain &amp; development
2020

ADHD and ADHD-related neural networks in benign epilepsy with centrotemporal spikes: A systematic review.

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

Early prediction of encephalopathic transformation in children with benign epilepsy with centro-temporal spikes.

Brain &amp; development
2020

Multilobar Epilepsy Surgery in Childhood and Adolescence: Predictors of Long-Term Seizure Freedom.

Neurosurgery
2020

Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2020

[Lipoma of calm body revealed by a convulsive crisis: about a case].

The Pan African medical journal
2020

Cortical and subcortical volume differences between Benign Epilepsy with Centrotemporal Spikes and Childhood Absence Epilepsy.

Epilepsy research
2020

Hypothalamic Hamartoma and Endocrinopathy: A Neurosurgeon's Perspective.

Neurology India
2020

Clinical and electroencephalographic features of benign childhood epilepsy with centrotemporal spikes comorbidity with attention-deficit hyperactivity disorder in Southwest China.

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

Clinical and experimental insight into pathophysiology, comorbidity and therapy of absence seizures.

Brain : a journal of neurology
2020

Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.

Human mutation
2020

Cerebral cavernous malformation presenting in childhood: a single-centered surgical experience of 29 cases.

Clinical neurology and neurosurgery
2020

Facial myokymia in inherited peripheral nerve hyperexcitability syndrome.

Practical neurology
2020

[Prognosis of benign childhood epilepsy with centrotemporal spikes: clinical utility of objective diagnostic criteria].

Revista de neurologia
2020

Cortical Excitability, Synaptic Plasticity, and Cognition in Benign Epilepsy With Centrotemporal Spikes: A Pilot TMS-EMG-EEG Study.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
2020

Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria.

Orphanet journal of rare diseases
2020

Social impairment and stigma in genetic generalized epilepsies.

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

Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.

Epilepsia
2020

Patterns of seizure prophylaxis after oncologic neurosurgery.

Journal of neuro-oncology
2019

Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus.

Journal of perinatal medicine
2020

Long-term follow-up of a large cohort with focal epilepsy of unknown cause: deciphering their clinical and prognostic characteristics.

Journal of neurology
2019

Clinical and genetic aspect of 30 tunisian families with febrile seizures.

La Tunisie medicale
2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nature communications
2020

The natural history of seizures and neuropsychiatric symptoms in childhood epilepsy with centrotemporal spikes (CECTS).

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

NaV1.2 haploinsufficiency in Scn2a knock-out mice causes an autistic-like phenotype attenuated with age.

Scientific reports
2019

Akinetic mutism and status epilepticus due to Epstein Barr virus encephalitis.

Clinical neurology and neurosurgery
2019

Magnetic Source Imaging Localization of 14 and 6 Hz Positive Bursts.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2021

Reduced thalamic volume is strongly associated with electrical status epilepticus in sleep.

Acta neurologica Belgica
2019

Neurogenic bladder in an adolescent woman with an ovarian tumour: an unusual presentation of anti-NMDA-receptor encephalitis.

BMJ case reports
2019

Propofol-induced refractory status epilepticus at remission age in benign epilepsy with centrotemporal spikes: A case report and literature review.

Medicine
2019

Cognitive profile in BECTS treated with levetiracetam: A 2-year follow-up.

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

Multinodular and Vacuolating Neuronal Tumor of the Cerebrum (MVNT): A case series and review of the literature.

Journal of neuroradiology = Journal de neuroradiologie
2019

SUDEP in the North American SUDEP Registry: The full spectrum of epilepsies.

Neurology
2019

KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series.

Molecular genetics &amp; genomic medicine
2019

[Tuberculoma of the right frontal lobe with epileptic seizures].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2019

Epileptic negative myoclonus restricted to lower limbs in benign childhood focal epilepsy with vertex spikes.

European journal of neurology
2019

Autism spectrum disorder and attention-deficit/hyperactivity disorder-related symptoms in benign childhood epilepsy with centrotemporal spikes: A prospective case-control study.

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

Meningioma and psychiatric symptoms: An individual patient data analysis.

Asian journal of psychiatry
2019

The spectrum of intermediate SCN8A-related epilepsy.

Epilepsia
2019

Posterior Reversible Encephalopathy Syndrome Complicating Diabetic Ketoacidosis.

Indian pediatrics
2019

Scalp recorded spike ripples predict seizure risk in childhood epilepsy better than spikes.

Brain : a journal of neurology
2019

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.

Molecular medicine (Cambridge, Mass.)
2019

Beta oscillations in the sensorimotor cortex correlate with disease and remission in benign epilepsy with centrotemporal spikes.

Brain and behavior
2020

Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review.

European journal of medical genetics
2019

Clinical spectrum of STX1B-related epileptic disorders.

Neurology
2019

Seizures After Stereotactic Radiosurgery for Benign Supratentorial Meningiomas: An Uncontrollable Type of Seizure?

World neurosurgery
2019

Co-existence of Rolandic and 3 Hz Spike-Wave Discharges on EEG in Children with Epilepsy.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2018

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Brain : a journal of neurology
2018

Asymptomatic malaria parasitaemia and seizure control in children with nodding syndrome; a cross-sectional study.

BMJ open
2018

Clinical Features at the Time of Diagnosis of Benign Epilepsy With Centrotemporal Spikes Do Not Predict Subsequent Seizures.

Pediatric neurology
2018

Fluoxetine overdose in a teenager resulting in serotonin syndrome, seizure and delayed onset rhabdomyolysis.

BMJ case reports
2018

Predictive Value of Midline Spikes on Pediatric EEG for Seizure and Developmental Outcome.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
2018

Seizure characteristics are related to tumor pathology in children with brain tumors.

Epilepsy research
2018

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

Epilepsia
2019

Epilepsy Surgery in the First 3 Years of Life: Predictors of Seizure Freedom and Cognitive Development.

Neurosurgery
2019

The landscape of epilepsy-related GATOR1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics
2018

Febrile seizures: an overview.

Drugs in context
2018

Could Rolandic spikes be a prognostic factor of the neurocognitive outcome of children with BECTS?

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

Vagus nerve stimulation (VNS) therapy update.

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

A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.

Epilepsia
2018

Supratentorial CAPNON associated with WHO grade II meningioma: A case report.

Neuropathology : official journal of the Japanese Society of Neuropathology
2018

Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.

Neurogenetics
2018

High voltage 14 Hz hippocampal discharges on stereotactic EEG underlying 14&6 Hz positive bursts on scalp EEG.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2018

Homozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism.

The Journal of clinical endocrinology and metabolism
2018

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.

Proceedings of the National Academy of Sciences of the United States of America
2018

Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.

Neuropediatrics
2018

Spike persistence and normalization in benign epilepsy with centrotemporal spikes - Implications for management.

Brain &amp; development
2018

Juvenile myoclonic epilepsy refractory to treatment in a tertiary referral center.

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

Endoscopic management of third ventricular colloid cysts in mildly dilated lateral ventricles.

Neurosurgical review
2018

Laser ablative therapy of sessile hypothalamic hamartomas in children using interventional MRI: report of 5 cases.

Journal of neurosurgery. Pediatrics
2017

[The course and the development of epilepsy in patients with typical variant of Rett syndrome and mutations].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2018

Prevalence of idiopathic epilepsy among school children in Gharbia Governorate, Egypt.

Brain &amp; development
2017

[The course and development of epilepsy in patients with typical variant of Rett syndrome and mutations].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2018

Seizure and cognitive outcomes after resection of glioneuronal tumors in children.

Epilepsia
2018

Frontal Lobe Epilepsy Surgery in Childhood and Adolescence: Predictors of Long-Term Seizure Freedom, Overall Cognitive and Adaptive Functioning.

Neurosurgery
2017

Type and etiology of pediatric epilepsy in Jordan. A multi-center study.

Neurosciences (Riyadh, Saudi Arabia)
2017

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

Brain : a journal of neurology
2017

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

BMC medical genetics
2017

Cognition in patients with benign epilepsy with centrotemporal spikes: A study with long-term VEEG and RS-fMRI.

Epilepsy &amp; behavior : E&amp;B
2017

Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

American journal of medical genetics. Part A
2017

Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome.

Pediatric neurology
2017

Long-term recurrence of dysembryoplastic neuroepithelial tumor: Clinical case report.

Surgical neurology international
2017

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2017

A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia.

Movement disorders clinical practice
2017

Surgery for dysembryoplastic neuroepithelial tumors and gangliogliomas in eloquent areas. Functional results and seizure control.

Neuro-Chirurgie
2017

Brief Potentially Ictal Rhythmic Discharges [B(I)RDs] in Noncritically Ill Adults.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
2017

Nursing management of reflex anoxic seizures in children.

Emergency nurse : the journal of the RCN Accident and Emergency Nursing Association
2017

Sudden Unexpected Death in Epilepsy Among Patients With Benign Childhood Epilepsy With Centrotemporal Spikes.

JAMA neurology
2017

Syncope In Pediatric Patients: A Practical Approach To Differential Diagnosis And Management In The Emergency Department.

Pediatric emergency medicine practice
2017

Coexistence of childhood absence epilepsy and benign epilepsy with centrotemporal spikes: A case series.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2017

Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up.

Parkinsonism &amp; related disorders
2017

Psychosocial and behavioral functioning and their relationship to seizure timing in children with benign epilepsy with centrotemporal spikes.

Brain &amp; development
2017

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

Epilepsy research
2017

Posterior cortex epilepsy surgery in childhood and adolescence: Predictors of long-term seizure outcome.

Epilepsia
2017

Identification and clinical course of 166 pediatric cardiac tumors.

European journal of pediatrics
2017

A KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in Taiwan.

Journal of the Formosan Medical Association = Taiwan yi zhi
2017

A comprehensive assessment of cognitive function in the common genetic generalized epilepsy syndromes.

European journal of neurology
2017

Ictal asystole: A systematic review.

Epilepsia
2016

Benign mesial temporal lobe epilepsy: A clinical cohort and literature review.

Epilepsy &amp; behavior : E&amp;B
2016

Pharmacokinetics, exposure-cognition, and exposure-efficacy relationships of perampanel in adolescents with inadequately controlled partial-onset seizures.

Epilepsy research
2016

Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.

Molecular syndromology
2016

Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A.

Molecular syndromology
2016

Angiocentric glioma transformed into anaplastic ependymoma: Review of the evidence for malignant potential.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2016

Glioneuronal tumors of cerebral hemisphere in children: correlation of surgical resection with seizure outcomes and tumor recurrences.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2016

Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy.

Movement disorders : official journal of the Movement Disorder Society
2016

Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study.

Lancet (London, England)
2016

Depression and anxiety in children with benign childhood epilepsy with centrotemporal spikes (BCECTS).

BMC pediatrics
2016

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Neurology
2016

Sultiame revisited: treatment of refractory absence seizures.

Epileptic disorders : international epilepsy journal with videotape
2016

Clinical features of patients with game-induced seizures in the Chinese population.

Seizure
2016

Central Versus Extraventricular Neurocytoma in Children: A Clinicopathologic Comparison and Review of the Literature.

Journal of pediatric hematology/oncology
2016

Idiopathic focal epilepsies: the "lost tribe".

Epileptic disorders : international epilepsy journal with videotape
2016

Ripples on rolandic spikes: A marker of epilepsy severity.

Epilepsia
2016

Phenobarbital for Neonatal Seizures: A Time for Perusal.

Indian pediatrics
2017

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.

Clinical genetics

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Febrile Seizures in an App-Based Children's Fever Registry: Mixed Methods Study.
    JMIR pediatrics and parenting· 2026· PMID 41791112mais citado
  2. Is It Psychogenic Non-Epileptic Event, Sleep Related Rhythmical Movement Disorder or Hypermotor Seizure?
    Journal of sleep research· 2026· PMID 41662827mais citado
  3. Evolution into spike-and-wave activation in sleep in patients with self-limited focal epilepsies.
    Seizure· 2026· PMID 41570778mais citado
  4. Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.
    Epilepsia· 2026· PMID 41351427mais citado
  5. Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC).
    Epilepsia· 2026· PMID 41133912mais citado
  6. Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome.
    Orphanet J Rare Dis· 2023· PMID 38049864recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1544(Orphanet)
  2. MONDO:0015471(MONDO)
  3. GARD:18728(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55785493(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

Convulsões focais benignas do adolescente
Compêndio · Raras BR

Convulsões focais benignas do adolescente

ORPHA:1544 · MONDO:0015471
CID-10
G40.8 · Outras epilepsias
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C4275141
Repurposing
21 candidatos
beclamideanticonvulsant
carbamazepinecarboxamide antiepileptic
eslicarbazepine-acetatesodium channel blocker
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