Journal article
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures
R Burgess, S Wang, A McTague, KE Boysen, X Yang, Q Zeng, KA Myers, A Rochtus, M Trivisano, D Gill, LG Sadleir, N Specchio, R Guerrini, C Marini, YH Zhang, HC Mefford, MA Kurian, AH Poduri, IE Scheffer
Annals of Neurology | WILEY | Published : 2019
DOI: 10.1002/ana.25619
Abstract
Objective: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encephalopathies. We delineate the genetic causes and genotype–phenotype correlations of a large EIMFS cohort. Methods: Phenotypic and molecular data were analyzed on patients recruited through an international collaborative study. Results: We ascertained 135 patients from 128 unrelated families. Ninety-three of 135 (69%) had causative variants (42/55 previously reported) across 23 genes, including 9 novel EIMFS genes: de novo dominant GABRA1, GABRB1, ATP1A3; X-linked CDKL5, PIGA; and recessive ITPA, AIMP1, KARS, WWOX. The most frequently implicated genes were KCNT1 (36/..
View full abstractRelated Projects (4)
Grants
Awarded by National Institute of Neurological Disorders and Stroke