Article
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
Neurology - 4 May 2021
Heron Sarah E, Regan Brigid M, Harris Rebekah V, Gardner Alison E, Coleman Matthew J, Bennett Mark F, Grinton Bronwyn E, Helbig Katherine L, Sperling Michael R, Haut Sheryl, Geller Eric B, Widdess-Walsh Peter, Pelekanos James T, Bahlo Melanie, Petrovski Slavé, Heinzen Erin L, Hildebrand Michael S, Corbett Mark A, Scheffer Ingrid E, Gécz Jozef, Berkovic Samuel F
Abstract excerpt
OBJECTIVE: To identify the causative gene in a large unsolved family with genetic epilepsy with febrile seizures plus (GEFS+), we sequenced the genomes of family members, and then determined the contribution of the identified gene to the pathogenicity of epilepsies by examining sequencing data from 2,772 additional patients. METHODS: We performed whole genome sequencing of 3 members of a GEFS+ family....
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