TBC1D24 genotype-phenotype correlation

S Balestrini; M Milh; C Castiglioni; K Lüthy; MJ Finelli; P Verstreken; A Cardon; BG Stražišar; JL Holder; G Lesca; MM Mancardi; AL Poulat; GM Repetto; S Banka; L Bilo; LE Birkeland; F Bosch; K Brockmann; JH Cross; D Doummar; TM Félix; F Giuliano; M Hori; I Hüning; H Kayserili; U Kini; MM Lees; G Meenakshi; L Mewasingh; AT Pagnamenta; S Peluso; A Mey; GM Rice; JA Rosenfeld; JC Taylor; MM Troester; CM Stanley; D Ville; M Walkiewicz; A Falace; A Fassio; JR Lemke; S Biskup; J Tardif; NF Ajeawung; A Tolun; M Corbett; J Gecz; Z Afawi; KB Howell; KL Oliver; SF Berkovic; IE Scheffer; FA De Falco; PL Oliver; P Striano; F Zara; PM Campeau; SM Sisodiya

Journal article

TBC1D24 genotype-phenotype correlation

S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli, P Verstreken, A Cardon, BG Stražišar, JL Holder, G Lesca, MM Mancardi, AL Poulat, GM Repetto, S Banka, L Bilo, LE Birkeland, F Bosch, K Brockmann, JH Cross, D Doummar Show all

Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2016

DOI: 10.1212/WNL.0000000000002807

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Abstract

Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24. Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). Results: Forty-eight patients were included (28 men, 20 women, average age 21 years) from 30 independent families. Eighteen patients (38%) had myoclonic epilepsies. The other patients carried diagnoses of focal (25%), multifocal (2%), generalized (4%), and unclassified epilepsy (6%), and early-onset epileptic encephalopathy (25%). Most patients had drug-resistant epilepsy. We detail ..

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University of Melbourne Researchers

Karen L Oliver Author

Sam Berkovic Author

Ingrid Scheffer Author

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Awarded by Department of Health and Social Care

Funding Acknowledgements

Part of this work was undertaken at University College London Hospitals, which received a proportion of funding from the NIHR Biomedical Research Centres funding scheme. S. Balestrini was supported by the Polytechnic University of Marche, Italy, with a 1-year research fellowship, and by funding from a Wellcome Trust Strategic Award (WT104033AIA). K.L. was supported by a BAEF fellowship. J.G. was supported by NHMRC grants 628952 and 1041920. A.T.P. and J.C.T. were supported by the Department of Health's National Institute for Health Research Biomedical Research Centres funding scheme. K.B.H. is supported by the Gustave Nossal NHMRC postgraduate scholarship and the Clifford PhD scholarship. N.F.A. was supported by Fonds de Recherche Sante Quebec and Fondation CHU Sainte-Justine. I.E.S. and S.F.B. were supported by NHMRC grant 628952. P.M.C. was supported by the Canadian Institutes of Health Research (CIHR RN324373 and RN315908) and the Fonds de Recherche Sante Quebec (FRQS 30647). P.L.O. received funding from the European Research Council under the European Union's Seventh Framework Programme (FP/2007-2013)/ERC Grant Agreement number 311394.