Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study
Volume: 88, Pages: 60 - 72
Published: May 1, 2021
Abstract
Epilepsy is a main manifestation in the autosomal dominant mental retardation syndrome caused by heterozygous variants in MEF2C. We aimed to delineate the electro-clinical features and refine the genotype-phenotype correlations in patients with MEF2C haploinsufficiency.We thoroughly investigated 25 patients with genetically confirmed MEF2C-syndrome across 12 different European Genetics and Epilepsy Centers, focusing on the epileptic phenotype....
Paper Details
Title
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study
Published Date
May 1, 2021
Volume
88
Pages
60 - 72
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