AUTHOR=Zhou Qilin , Lin Yicong , Ye Jing , Li Liping , Hu Ningning , Wang Di , Wang Yuping 

TITLE=Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua

JOURNAL=Frontiers in Neurology

VOLUME=Volume 8 - 2017

YEAR=2018

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2017.00750

DOI=10.3389/fneur.2017.00750

ISSN=1664-2295

ABSTRACT=TBC1D24 mutation related epileptic syndrome includes a wide spectrum of epilepsies. We describe a case with a homozygous TBC1D24 mutation inherited from consanguineous parents. The patient manifested epilepsia partialis continua (EPC) and rare secondary generalized tonic-clonic seizure without intellectual disability or developmental delay. EPC, which involved focal limbs, came with waking and went with sleep. The genetic analysis reported a novel mutation in the TBC1D24 gene, c.229_240del (p.82_84del). The homozygous mutation was inherited from her healthy parents who were heterozygous. Morphometric analysis program (MAP), an MRI post-processing technique, was used and detected a subtle abnormality of the brain. A comprehensive analysis based on semiology, EEG, SEP and MAP suggested a potential focal structural abnormality. This case indicates a possible correlation between the TBC1D24 mutation and brain development abnormality.