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=8

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=<p><italic>TBC1D24</italic> mutation-related epileptic syndrome includes a wide spectrum of epilepsies. We describe a case with a homozygous <italic>TBC1D24</italic> 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 <italic>TBC1D24</italic> 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, electroencephalogram, somatosensory-evoked potential, and MAP suggested a potential focal structural abnormality. This case indicates a possible correlation between the <italic>TBC1D24</italic> mutation and brain development abnormality.</p>