Open AccessAssociation of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
Author(s) -
Sarah E. Heron,
Brigid M. Regan,
Rebekah V. Harris,
Alison Gardner,
Matthew Coleman,
Mark F. Bennett,
Bronwyn E. Grinton,
Ingo Helbig,
Michael R. Sperling,
Sheryl R. Haut,
Eric B. Geller,
Peter WiddessWalsh,
James T. Pelekanos,
Melanie Bahlo,
Slavé Petrovski,
Erin L. Heinzen,
Michael S. Hildebrand,
Mark Corbett,
Ingrid E. Scheffer,
Jozef Gécz,
Samuel F. Berkovic
Publication year - 2021
Publication title -
neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.91
H-Index - 364
eISSN - 1526-632X
pISSN - 0028-3878
DOI - 10.1212/wnl.0000000000011855
Subject(s) - missense mutation , epilepsy , sanger sequencing , genetics , biology , exome sequencing , idiopathic generalized epilepsy , febrile seizure , phenotype , epilepsy syndromes , dravet syndrome , mutation , gene , neuroscience
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.