期刊
ANNALS OF NEUROLOGY
卷 75, 期 5, 页码 782-787出版社
WILEY-BLACKWELL
DOI: 10.1002/ana.24126
关键词
-
资金
- National Health and Medical Research Council of Australia [628952, 1006110, 1016715, 1032603]
- UCB Pharma
- Australian Research Council [120100285]
We recently identified DEPDC5 as the gene for familial focal epilepsy with variable foci and found mutations in >10% of small families with nonlesional focal epilepsy. Here we show that DEPDC5 mutations are associated with both lesional and nonlesional epilepsies, even within the same family. DEPDC5-associated malformations include bottom-of-the-sulcus dysplasia (3 members from 2 families), and focal band heterotopia (1 individual). DEPDC5 negatively regulates the mammalian target of rapamycin (mTOR) pathway, which plays a key role in cell growth. The clinicoradiological phenotypes associated with DEPDC5 mutations share features with the archetypal mTORopathy, tuberous sclerosis, raising the possibility of therapies targeted to this pathway.
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