Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. (12th March 2015)

• Record Type: Journal Article
• Authors: Scerri, Thomas; Riseley, Jessica R.; Gillies, Greta; Pope, Kate; Burgess, Rosemary; Mandelstam, Simone A.; Dibbens, Leanne; Chow, Chung W.; Maixner, Wirginia; Harvey, Anthony Simon; Jackson, Graeme D.; Amor, David J.; Delatycki, Martin B.; Crino, Peter B.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Bahlo, Melanie; Lockhart, Paul J.; Leventer, Richard J.
• Is Part Of: Annals of clinical and translational neurology. Volume 2:Number 5(2015:May)
• Page Start: 575
• Page End: 580
• Publication Date: 2015-03-12
• Subjects: Nervous system -- Diseases -- Periodicals; Neurology -- Periodicals; 616.8005
• DOI: 10.1002/acn3.191
• Languages: English
• ISSNs: 2328-9503

Abstract

<abstract abstract-type="main" id="acn3191-abs-0001"> <title>Abstract</title> <p>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 <italic>DEPDC5</italic> (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 <italic>DEPDC5</italic> mutation, confirms mTOR dysregulation in the malformed tissue and expands the spectrum of neurological manifestations of <italic>DEPDC5</italic> mutations to include severe phenotypes with large areas of cortical malformation.</p> </abstract>