Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
- Author(s)
- Scerri, T; Riseley, JR; Gillies, G; Pope, K; Burgess, R; Mandelstam, SA; Dibbens, L; Chow, CW; Maixner, W; Simon Harvey, A; Jackson, GD; Amor, DJ; Delatycki, MB; Crino, PB; Berkovic, SF; Scheffer, IE; Bahlo, M; Lockhart, PJ; Leventer, RJ;
- Details
- Publication Year 2015-05,Volume 2,Issue #5,Page 575-80
- Journal Title
- Ann Clin Transl Neurol
- Publication Type
- Journal Article
- Abstract
- Whole-exome sequencing of two brothers with drug-resistant, early-onset, focal epilepsy secondary to extensive type IIA focal cortical dysplasia identified a paternally inherited, nonsense variant of DEPDC5 (c.C1663T, p.Arg555*). This variant has previously been reported to cause familial focal epilepsy with variable foci in patients with normal brain imaging. Immunostaining of resected brain tissue from both brothers demonstrated mammalian target of rapamycin (mTOR) activation. This report shows the histopathological features of cortical dysplasia associated with a DEPDC5 mutation, confirms mTOR dysregulation in the malformed tissue and expands the spectrum of neurological manifestations of DEPDC5 mutations to include severe phenotypes with large areas of cortical malformation.
- Publisher
- American Neurological Association
- Research Division(s)
- Population Health And Immunity
- PubMed ID
- 26000329
- Link To PubMed Central Version
- http://www.ncbi.nlm.nih/pmc/articles/PMC4435711/
- Publisher's Version
- https://doi.org/10.1002/acn3.191
- Open Access at Publisher's Site
http://onlinelibrary.wiley.com/doi/10.1002/acn3.191/full- NHMRC Grants
- NHMRC/1032364,
- ARC Grants
- ARC/FT100100764,
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2015-06-15 09:53:29
Last Modified: 2019-04-01 09:02:34