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Epilepsia|February 25, 2020
Biological concepts in human sodium channel epilepsies and their relevance in clinical practiceAndreas Brunklaus, Juanjiangmeng Du, Felix Steckler, et al.
Pediatrics|February 5, 2008
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardationAgatino Battaglia, H Eugene Hoyme, Bruno Dallapiccola, et al.
Epilepsia Open|August 3, 2026
Changes in effectiveness and safety in patients with Lennox-Gastaut syndrome transitioning from the fenfluramine randomized controlled trial to open-label extension studyRima Nabbout, Orrin Devinsky, Lieven Lagae, et al.
Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.
Epilepsia|February 1, 2021
The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal SeizuresRonit M Pressler, Maria Roberta Cilio, Eli M Mizrahi, et al.
Epilepsia|March 10, 2017
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and TerminologyIngrid E Scheffer, Samuel Berkovic, Giuseppe Capovilla, et al.
Developmental Medicine and Child Neurology|November 21, 2012
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsyAndreas Brunklaus, Liam Dorris, Rachael Ellis, et al.
Epilepsia|May 3, 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 DefinitionsKate Riney, Alicia Bogacz, Ernest Somerville, et al.
JAMA Neurology|May 2, 2022
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical TrialKelly G Knupp, Ingrid E Scheffer, Berten Ceulemans, et al.
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