Clinical and genetic characteristics of epilepsy of infancy with migrating focal seizures in Chinese children
Sign Up to like & getrecommendations! Published in 2021 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2021.106669
Abstract: OBJECTIVE Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare and severe developmental epileptic encephalopathy. The aim of this study was to improve our understanding of EIMFS by using phenotype-genotype correlation. METHODS We… read more here.
Keywords: infancy migrating; focal seizures; migrating focal; clinical genetic ... See more keywords
A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.13049
Abstract: Epilepsy of infancy with migrating focal seizures (EIMFS) is an infantile epileptic encephalopathy characterized by refractory seizures, severe psychomotor delay, and multiple moving epileptic discharges. The genetic etiology of EIMFS is relatively homogeneous with the… read more here.
Keywords: infancy migrating; focal seizures; migrating focal; epilepsy infancy ... See more keywords