The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

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 (36/135, 27%) and SCN2A (10/135, 7%). Mosaicism occurred in 2 probands (SCN2A, GABRB3

SUBMITTER: Burgess R 

PROVIDER: S-EPMC7423163 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature