Ontology highlight
ABSTRACT:
SUBMITTER: Duan H
PROVIDER: S-EPMC5900813 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Duan Haolin H Peng Jing J Kessi Miriam M Yin Fei F
Child neurology open 20180411
Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare type of early-onset epileptic encephalopathy that is characterized by refractory migratory multifocal seizures that migrate between hemispheres. Its etiology is not well known although it is postulated to occur due to channelopathy. The authors report the first case of EIMFS due to a de novo heterozygous mutation in exon 4(c.881C>T missense mutation, p.Ala294Val, NM_172107.2) in <i>KCNQ2</i> gene which later evolved into infanti ...[more]