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Epilepsia|February 27, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsiesDeclan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, et al.
Brain : a Journal of Neurology|October 23, 2021
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinantsJoseph D Symonds, Katherine S Elliott, Jay Shetty, et al.
Human Mutation|October 25, 2017
Gain-of-function HCN2 variants in genetic epilepsyMelody Li, Snezana Maljevic, A Marie Phillips, et al.
HGG Advances|April 11, 2026
Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye SyndromeAnushree Acharya, Irma Järvelä, Andrea Hernandez, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|May 31, 2022
Late epileptic seizures following cerebral venous thrombosis: a systematic review and meta-analysisSara Gasparini, Sabrina Neri, Francesco Brigo, et al.
Clinical Genetics|May 16, 2023
Novel biallelic variants expand the phenotype of NAA20-related syndromeGianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, et al.
Epilepsy Research|April 29, 2008
Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteinsErica Diani, Carlo Di Bonaventura, Oriano Mecarelli, et al.
Epilepsy Research and Treatment|September 1, 2012
ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal EpilepsyLaura Rigon, Andrea Vettori, Giorgia Busolin, et al.
Brain Sciences|September 28, 2021
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan SyndromeCeleste Casto, Valeria Dipasquale, Ida Ceravolo, et al.
Neurology|January 25, 2022
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related EpilepsiesAndreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, et al.
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