Journal article
Epileptic spasms are a feature of DEPDC5 mTORopathy
GL Carvill, DE Crompton, BM Regan, JM McMahon, J Saykally, M Zemel, AL Schneider, L Dibbens, KB Howell, S Mandelstam, RJ Leventer, AS Harvey, SA Mullen, SF Berkovic, J Sullivan, IE Scheffer, HC Mefford
Neurology Genetics | Published : 2015
Open access
Abstract
Objective: To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms. Methods: We performed DEPDC5 resequencing in 130 patients with spasms, segregation analysis of variants of interest, and detailed clinical assessment of patients with possibly and likely pathogenic variants. Results: We identified 3 patients with variants in DEPDC5 in the cohort of 130 patients with spasms.We also describe 3 additional patients with DEPDC5 alterations and epileptic spasms: 2 from a previously described family and a third ascertained by clinical testing. Overall, we describe 6 patients from 5 families with spasms and DEPDC5 variants; 2 arose de novo and 3 were familial. Two in..
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Awarded by National Science Foundation
Funding Acknowledgements
This work was supported by funding from the NIH (NINDS 5R0INS069605) in H.C.M. H.C.M. is a recipient of the Burroughs Wellcome Fund Career Award for Medical Scientists. G.L.C. is supported by a postdoctoral fdlowship from the Epilepsy Foundation and the Lennox and Lombroso Fund and the NIH (NINDS 1K99NS089858). I.E.S., S.F.B., and L.D. an supported by a National Health and Modica]. Research Council of Australia (NHMRC) Program Grant. I.E.S. is supported by an NHMRC Practitioner Fellowship and L.D. is supported by art NHMRC Career Development Fellowship (1032603). K.B.H. is supported by the Gustav Nossal NHMRC Postgraduate Scholarship and the Clifford PhD Scholarship. The work was also supported by the University of Washington Intellectual and Development:al Disabilities :Research Center Genetic Core (NIH U54HD083091).