Ontology highlight
ABSTRACT:
SUBMITTER: Scerri T
PROVIDER: S-EPMC4435711 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Scerri Thomas T Riseley Jessica R JR Gillies Greta G Pope Kate K Burgess Rosemary R Mandelstam Simone A SA Dibbens Leanne L Chow Chung W CW Maixner Wirginia W Harvey Anthony Simon AS Jackson Graeme D GD Amor David J DJ Delatycki Martin B MB Crino Peter B PB Berkovic Samuel F SF Scheffer Ingrid E IE Bahlo Melanie M Lockhart Paul J PJ Leventer Richard J RJ
Annals of clinical and translational neurology 20150312 5
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 show ...[more]