Drug resistance in epilepsy

E Perucca, P Perucca, HS White, EC Wirrell - The Lancet Neurology, 2023 - thelancet.com
Drug resistance is estimated to affect about a third of individuals with epilepsy, but its
prevalence differs in relation to the epilepsy syndrome, the cause of epilepsy, and other …

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

SM Zuberi, E Wirrell, E Yozawitz, JM Wilmshurst… - …, 2022 - Wiley Online Library
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …

International consensus on diagnosis and management of Dravet syndrome

EC Wirrell, V Hood, KG Knupp, MA Meskis… - …, 2022 - Wiley Online Library
Objective This study was undertaken to gain consensus from experienced physicians and
caregivers regarding optimal diagnosis and management of Dravet syndrome (DS), in the …

[HTML][HTML] Data-driven historical characterization of epilepsy-associated genes

M Macnee, E Pérez-Palma, JA López-Rivera… - European Journal of …, 2023 - Elsevier
Many epilepsy-associated genes have been identified over the last three decades, revealing
a remarkable molecular heterogeneity with the shared outcome of recurrent seizures …

Rates of status epilepticus and sudden unexplained death in epilepsy in people with genetic developmental and epileptic encephalopathies

AM Donnan, AL Schneider, S Russ-Hall, L Churilov… - Neurology, 2023 - AAN Enterprises
Background and Objectives The genetic developmental and epileptic encephalopathies
(DEEs) comprise a large group of severe epilepsy syndromes, with a wide phenotypic …

[HTML][HTML] Performance evaluation of metaheuristics-tuned recurrent neural networks for electroencephalography anomaly detection

D Pilcevic, M Djuric Jovicic, M Antonijevic… - Frontiers in …, 2023 - frontiersin.org
Electroencephalography (EEG) serves as a diagnostic technique for measuring brain waves
and brain activity. Despite its precision in capturing brain electrical activity, certain factors …

Epidemiology of developmental and epileptic encephalopathy and of intellectual disability and epilepsy in children

G Poke, J Stanley, IE Scheffer, LG Sadleir - Neurology, 2023 - AAN Enterprises
Background and Objectives We aimed to determine the population-based cumulative
incidence and prevalence of developmental and epileptic encephalopathies (DEEs) and …

[HTML][HTML] Dravet syndrome in children—A population-based study

B Bjurulf, C Reilly, GV Sigurdsson, S Thunström… - Epilepsy research, 2022 - Elsevier
Objective The aim was to describe age at diagnosis, cumulative incidence, SCN1A variants,
mortality, seizure types and treatments in children with Dravet Syndrome (DS) in Sweden …

Predicting functional effects of ion channel variants using new phenotypic machine learning methods

CM Boßelmann, UBS Hedrich, H Lerche… - PLOS Computational …, 2023 - journals.plos.org
Missense variants in genes encoding ion channels are associated with a spectrum of severe
diseases. Variant effects on biophysical function correlate with clinical features and can be …

Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome

T Feng, P Makiello, B Dunwoody, F Steckler… - Brain …, 2024 - academic.oup.com
Dravet syndrome is a severe infantile onset developmental and epileptic encephalopathy
associated with mutations in the sodium channel alpha 1 subunit gene SCN1A. Prospective …