Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures.

ABSTRACT: Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) is a rare developmental and epileptic encephalopathy (DEEs) with unknown etiology, and poor prognosis. In order to explore new genetic etiology of EIMFS and new precision medicine treatment strategies, 36 children with EIMFS were enrolled in this study. 17/36 cases had causative variants across 11 genes, including 6 novel EIMFS genes: PCDH19, ALDH7A1, DOCK6, PRRT2, ALG1 and ATP7A. 13/36 patients had ineffective seizure control, 14/36 patients had severe retardation and 6/36 patients died. Of them, the genes for ineffective seizure control, severe retardation or death include KCNT1, SCN2A, SCN1A, ALG1, ATP7A and WWOX. 17 patients had abnormal MRI, of which 8 had ineffective seizure control, 7 had severe retardation and 4 died. 13 pat

SUBMITTER: Yang H 

PROVIDER: S-EPMC9205988 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature