Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
Sarah E Heron, Brigid M Regan, Rebekah V Harris, Alison E Gardner, Matthew J Coleman, Mark F Bennett, Bronwyn E Grinton, Katherine L Helbig, Michael R Sperling, Sheryl Haut, Eric B Geller, Peter Widdess-Walsh, James T Pelekanos, Melanie Bahlo, Slave Petrovski, Erin L Heinzen, Michael S Hildebrand, Mark A Corbett, Ingrid E Scheffer, Jozef Gecz Show all
NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2021
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. Subsequently, whole exome sequencing data from 1,165 patients with epilepsy from the Epi4K dataset and 1,329 Australian patients with epilepsy from the Epi25 dataset were interrogated. Targeted resequencing was performed on 278 patients with febrile seizures or GEFS+ phenotypes. Variants were v..View full abstract
Awarded by National Health and Medical Research Council of Australia
Awarded by Career Development Fellowship
This work was supported by grants from the National Health and Medical Research Council of Australia: Program Grant 1091593 to S.F.B., I.E.S., and J.G.; Career Development Fellowship 1085984 to S.E.H.; Senior Research Fellowship 1102971 to M.B.; and Senior Practitioner Fellowship 1104831 to I.E.S. Additional funding was provided by the Independent Research Institute Infrastructure Support Scheme and the Victorian State Government Operational Infrastructure Program.