Clinical and genetic characteristics of epilepsy of infancy with migrating focal seizures in Chinese children
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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
Psychomotor development and seizure features in idiopathic myoclonic epilepsy in infancy
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000030512
Abstract: Myoclonic epilepsy in infancy (MEI) is a rare syndrome characterized by generalized myoclonic seizures (MS) that occur within the first 3 years of life. In the present study, the form of onset, and clinical and… read more here.
Keywords: mei; psychomotor development; myoclonic epilepsy; epilepsy infancy ... See more keywords
A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures
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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