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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.
Epilepsy & Behavior : E&B|December 20, 2020
Evaluating risk to people with epilepsy during the COVID-19 pandemic: Preliminary findings from the COV-E studyJennifer Thorpe, Samantha Ashby, Asma Hallab, et al.
Epilepsia|February 7, 2017
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new casesJoseph D Symonds, Shelagh Joss, Kay A Metcalfe, et al.
Nature Genetics|June 6, 2006
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle diseaseMark I Rees, Kirsten Harvey, Brian R Pearce, et al.
Brain : a Journal of Neurology|July 2, 2011
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathologyClaudia B Catarino, Joan Y W Liu, Ioannis Liagkouras, et al.
Epilepsia|May 19, 2015
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcomeBronwyn E Grinton, Sarah E Heron, James T Pelekanos, et al.
Brain : a Journal of Neurology|March 10, 2007
The spectrum of SCN1A-related infantile epileptic encephalopathiesLouise A Harkin, Jacinta M McMahon, Xenia Iona, et al.
Brain : a Journal of Neurology|June 18, 2010
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)Philippa B Mills, Emma J Footitt, Kevin A Mills, et al.
Epilepsia|February 2, 2026
Characterizing early behavioral and social-emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history studyIngrid E Scheffer, M Scott Perry, Joseph Sullivan, et al.
Brain : a Journal of Neurology|May 22, 2020
Distinctive binding properties of human monoclonal LGI1 autoantibodies determine pathogenic mechanismsMelanie Ramberger, Antonio Berretta, Jeanne M M Tan, et al.
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