Association of
Publication/Presentation Date
5-4-2021
Abstract
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 validated and familial segregation examined by Sanger sequencing.
RESULTS: Eight previously unreported missense variants were identified in
CONCLUSION: Missense variants in
Volume
96
Issue
18
First Page
2251
Last Page
2251
ISSN
1526-632X
Published In/Presented At
Heron, S. E., Regan, B. M., Harris, R. V., Gardner, A. E., Coleman, M. J., Bennett, M. F., Grinton, B. E., Helbig, K. L., Sperling, M. R., Haut, S., Geller, E. B., Widdess-Walsh, P., Pelekanos, J. T., Bahlo, M., Petrovski, S., Heinzen, E. L., Hildebrand, M. S., Corbett, M. A., Scheffer, I. E., Gécz, J., … Berkovic, S. F. (2021). Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus. Neurology, 96(18), e2251–e2260. https://doi.org/10.1212/WNL.0000000000011855
Disciplines
Medicine and Health Sciences
PubMedID
34038384
Department(s)
Department of Medicine
Document Type
Article