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Epilepsia|May 1, 2022
International consensus on diagnosis and management of Dravet syndromeElaine C Wirrell, Veronica Hood, Kelly G Knupp, et al.Nature Communications|July 21, 2022
Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortexTamar Sapir, Aditya Kshirsagar, Anna Gorelik, et al.American Journal of Medical Genetics. Part A|November 22, 2017
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assayKenneth A Myers, Mark F Bennett, Chung W Chow, et al.Epilepsia|December 22, 2017
ADGRV1 is implicated in myoclonic epilepsyKenneth A Myers, Steven Nasioulas, Amber Boys, et al.American Journal of Medical Genetics. Part A|December 29, 2015
A mutation in COL4A2 causes autosomal dominant porencephaly with cataractsThuong T Ha, Lynette G Sadleir, Simone A Mandelstam, et al.Epilepsia|September 3, 2015
Mind the gap: Multiple events and lengthy delays before presentation with a "first seizure"Anna L Firkin, David J T Marco, Sibel Saya, et al.International Journal of Molecular Sciences|September 4, 2020
Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic EncephalopathyGéza Berecki, Katherine L Helbig, Tyson L Ware, et al.American Journal of Human Genetics|January 17, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeSarah E Heron, Bronwyn E Grinton, Sara Kivity, et al.Annals of Neurology|March 28, 2020
Antiepileptic Drug Teratogenicity and De Novo Genetic Variation LoadPiero Perucca, Alison Anderson, Dana Jazayeri, et al.Brain : a Journal of Neurology|September 24, 2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.Pageof 74