Brain surgery for medically intractable epilepsy

V Joris, AG Weil, A Fallah - Advances in Pediatrics, 2022 - advancesinpediatrics.com
Children suffering from drug-resistant epilepsy must be quickly referred to a comprehensive
pediatric epilepsy center for a thorough presurgical evaluation. Early referral allows for early …

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder

N Orenstein, H Goldberg-Stern, R Straussberg… - European journal of …, 2018 - Elsevier
Background Early-onset epileptic encephalopathy (EOEE) is a severe convulsive disorder
with a poor developmental prognosis. Although it has been associated with mutations in a …

Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy

JH Na, S Shin, D Yang, B Kim, HD Kim, S Kim… - Brain and …, 2020 - Elsevier
Background Early-onset developmental and epileptic encephalopathy (DEE) is
characterized by repeated seizures beginning within 3 months of birth and severe interictal …

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy

L Mary, E Nourisson, C Feger, V Laugel… - American Journal of …, 2021 - Wiley Online Library
High‐throughput sequencing (HTS) improved the molecular diagnosis in individuals with
intellectual deficiency (ID) and helped to broaden the phenotype of previously known …

[HTML][HTML] Therapeutic benefits of ACTH and levetiracetam in STXBP1 encephalopathy with a de novo mutation: A case report and literature review

S Liu, L Wang, XT Cai, H Zhou, D Yu, Z Wang - Medicine, 2018 - journals.lww.com
Interventions: We adjusted the antiepileptic strategy to oral levetiracetam and topiramate,
and intravenous administration of adrenocorticotropic hormone (ACTH) for 2 weeks …

Clinical features and surgical outcomes in young children with focal cortical dysplasia type II

TS Wang, QZ Liu, M Liu, Q Zhang… - CNS Neuroscience …, 2020 - Wiley Online Library
Aims To investigate clinical characteristics and surgery outcomes of young children with
focal cortical dysplasia (FCD) type II. Methods Young children (onset age≤ 6 years) with …

[HTML][HTML] Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel

EH Lee - Korean journal of pediatrics, 2018 - ncbi.nlm.nih.gov
Recent advances in genetics have determined that a number of epilepsy syndromes that
occur in the first year of life are associated with genetic etiologies. These syndromes range …

[HTML][HTML] Neonatal seizure

C Krawiec, MR Muzio - StatPearls [Internet], 2023 - ncbi.nlm.nih.gov
Objectives: Identify the etiology of neonatal seizures. Review the appropriate evaluation of
neonatal seizures. Outline the management options available for neonatal seizures. Identify …

Genetic testing and hospital length of stay in neonates with epilepsy

H Akbari, A Sunderraj, N Sanchez-Pinto, AT Berg… - Pediatric …, 2022 - Elsevier
Background We evaluated changes in genetic testing for neonatal-onset epilepsy and
associated short-term outcomes over an 8-year period among a cohort of patients in the …

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and …

D Veltra, FN Tilemis, NM Marinakis… - Expert Review of …, 2023 - Taylor & Francis
Objectives Genetics of epilepsy are highly heterogeneous and complex. Lesions detected
involve genes encoding various types of channels, transcription factors, and other proteins …