TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2022.106923
Abstract: INTRODUCTION Disorders associated with mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 gene (TBC1D24) present a wide range of phenotypes, ranging from mild to fatal seizure diseases, non-syndromic deafness, and complex syndromes such as… read more here.
Keywords: tbc1d24 related; myoclonic epilepsy; familial infantile; homozygous tbc1d24 ... See more keywords