Journal article
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures
Abstract
Epilepsy of infancy with migrating focal seizures (EIMFS), one of the most severe developmental and epileptic encephalopathy syndromes, is characterized by seizures that migrate from one hemisphere to the other. EIMFS is genetically heterogeneous with 33 genes. We report five patients with EIMFS caused by recessive BRAT1 variants, identified via next generation sequencing. Recessive pathogenic variants in BRAT1 cause the rigidity and multifocal …
Authors
Scheffer IE; Boysen KE; Schneider AL; Myers CT; Mehaffey MG; Rochtus AM; Yuen Y; Ronen GM; Chak WK; Gill D
Journal
Developmental Medicine & Child Neurology, Vol. 62, No. 9, pp. 1096–1099
Publisher
Wiley
Publication Date
September 2020
DOI
10.1111/dmcn.14428
ISSN
0012-1622