DEPDC5 mutations in familial and sporadic focal epilepsy.

Meng-Han TsaiC-K ChanY-C ChangY-T YuS-T ChuangW-L FanS-C LiT-Y FuW-N ChangC-W LiouY-C ChuangC-C NgD-Y HwangK-S Lim

Published in: Clinical genetics (2017)

Our finding suggests that DEPDC5 is not only the most common gene for familial focal epilepsy but also could be a significant gene for sporadic focal epilepsy. Since focal epilepsies account for more than 60% of all epilepsies, the effect of mTORC1 inhibitor on patients with focal epilepsy due to DEPDC5 mutations will be an important future direction of research.

Keyphrases

late onset
early onset
genome wide
copy number
amyotrophic lateral sclerosis
gene expression
temporal lobe epilepsy
genome wide identification
transcription factor