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Neurology. Genetics|August 6, 2026
Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 EncephalopathyMatteo Lenge, Alice Dainelli, Simona Balestrini, et al.
Epilepsy & Behavior : E&B|October 11, 2025
Final analysis from an open-label extension study of fenfluramine for the treatment of seizures in Lennox-Gastaut syndrome: long-term impact on patients and caregiversKelly G Knupp, Ingrid E Scheffer, An-Sofie Schoonjans, et al.
Annals of Clinical and Translational Neurology|May 23, 2015
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5Thomas Scerri, Jessica R Riseley, Greta Gillies, et al.
Brain : a Journal of Neurology|April 20, 2013
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrumAmy McTague, Richard Appleton, Shivaram Avula, et al.
Epilepsia|May 3, 2022
Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and DefinitionsElaine C Wirrell, Rima Nabbout, Ingrid E Scheffer, et al.
Epilepsia|May 3, 2022
ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and DefinitionsEdouard Hirsch, Jacqueline French, Ingrid E Scheffer, et al.
Epilepsia|June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancyAnnapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
Annals of Neurology|December 23, 2011
Rare copy number variants are an important cause of epileptic encephalopathiesHeather C Mefford, Simone C Yendle, Cynthia Hsu, et al.
Epilepsia|February 27, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsiesDeclan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, et al.
Annals of Neurology|January 26, 2012
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathySarah Weckhuysen, Simone Mandelstam, Arvid Suls, et al.
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