Case series of early SCN1A-related developmental and epileptic encephalopathies
VK Gowda, R Amoghimath, M Battina… - Journal of Pediatric …, 2021 - journals.lww.com
MATERIALS AND METHODS This is a retrospective chart review of children with early
SCN1A-related DEEs from the tertiary care referral center, from the southern part of India …
SCN1A-related DEEs from the tertiary care referral center, from the southern part of India …
A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: comparison with previous truncated mutations and genotype/phenotype …
MB Jdila, C Triki, BB Rhouma, RB Jomaa… - International Journal of …, 2019 - Elsevier
Abstract Introduction West Syndrome is a severe epileptic encephalopathy characterized by
epileptic spasms, hypsarrhythmia, and regression of psychomotor acquisitions beginning in …
epileptic spasms, hypsarrhythmia, and regression of psychomotor acquisitions beginning in …
Interictal EEG features as computational biomarkers of West syndrome
J Li, A Ping, Y Zhou, T Su, X Li, S Xu - Frontiers in Pediatrics, 2024 - frontiersin.org
Background West syndrome (WS) is a devastating epileptic encephalopathy with onset in
infancy and early childhood. It is characterized by clustered epileptic spasms …
infancy and early childhood. It is characterized by clustered epileptic spasms …
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1
AA Alfaiz, V Müller, N Boutry-Kryza, D Ville… - European Journal of …, 2016 - nature.com
West syndrome (WS), defined by the triad of infantile spasms, pathognomonic
hypsarrhythmia and developmental regression, is a rare epileptic disease affecting about 1 …
hypsarrhythmia and developmental regression, is a rare epileptic disease affecting about 1 …
[PDF][PDF] Lennox-Gastaut syndrome in mitochondrial disease
S Lee, MS Baek, YM Lee - Yonsei Medical Journal, 2019 - synapse.koreamed.org
Purpose Previous studies have shown that neurologic symptoms are dominant in patients
with mitochondrial diseases, and most of these patients have seizure-related disorders. The …
with mitochondrial diseases, and most of these patients have seizure-related disorders. The …
De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms
Q Wang, Z Liu, Z Lin, R Zhang, Y Lu, W Su, F Li… - Frontiers in …, 2019 - frontiersin.org
Infantile spasm (IS) is an early-onset epileptic encephalopathy that usually presents with
hypsarrhythmia on an electroencephalogram with developmental impairment or regression …
hypsarrhythmia on an electroencephalogram with developmental impairment or regression …
[HTML][HTML] Epidemiology and outcome of infantile spasms in Denmark in 1996–2019
CCH Winther, AW Klein-Petersen, M Preel… - … : European Journal of …, 2024 - Elsevier
Purpose To investigate the treatment of infantile epileptic spasm syndrome (IESS) in
Denmark. Methods National retrospective cohort study of all patients born 1996–2019 who …
Denmark. Methods National retrospective cohort study of all patients born 1996–2019 who …
Intraventricular SEEG and laser ablation for the treatment of infantile spasm
X Xu, Q Wang, Y Zhao, X Xu, Z Gan… - Brain and …, 2023 - Wiley Online Library
Objectives Infantile spasm (IS) is an epileptic encephalopathy with ongoing neurological
damage due to seizures and epileptiform abnormalities. Epilepsy surgery is considered for …
damage due to seizures and epileptiform abnormalities. Epilepsy surgery is considered for …
Seizure Detection of West Syndrome Based on Hybrid Optimization of Entropies with Multisensor EEG Data
West syndrome is a persistent disease with common, age-dependent, severe neurological
disorder that poses a substantial risk to intellectual and motor deficits of children …
disorder that poses a substantial risk to intellectual and motor deficits of children …
[HTML][HTML] Prednisolone or tetracosactide depot for infantile epileptic spasms syndrome? A prospective analysis of data embedded within two randomised controlled …
JP Osborne, SW Edwards, FD Alber, E Hancock… - European Journal of …, 2023 - Elsevier
Objective To report a prospectively planned analysis of two randomised controlled trials with
embedded comparisons of prednisolone versus tetracosactide depot for the treatment of …
embedded comparisons of prednisolone versus tetracosactide depot for the treatment of …