Journal article
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
C Marini, IE Scheffer, R Nabbout, D Mei, K Cox, LM Dibbens, JM McMahon, X Iona, RS Carpintero, M Elia, MR Cilio, N Specchio, L Giordano, P Striano, E Gennaro, JH Cross, S Kivity, MY Neufeld, Z Afawi, E Andermann Show all
Epilepsia | WILEY | Published : 2009
Abstract
Objective: We aimed to determine the type, frequency, and size of microchromosomal copy number variations (CNVs) affecting the neuronal sodium channel α 1 subunit gene (SCN1A) in Dravet syndrome (DS), other epileptic encephalopathies, and generalized epilepsy with febrile seizures plus (GEFS+). Methods: Multiplex ligation-dependent probe amplification (MLPA) was applied to detect SCN1A CNVs among 289 cases (126 DS, 97 GEFS+, and 66 with other phenotypes). CNVs extending beyond SCN1A were further characterized by comparative genome hybridization (array CGH). Results: Novel SCN1A CNVs were found in 12.5% of DS patients where sequence-based mutations had been excluded. We identified the first p..
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Funding Acknowledgements
We thank the patients and their families for their participation in this study. The Italian series was supported by the Genetic Commission of the Italian League Against Epilepsy; the French series was supported by Genethon and ARGE sponsored by Sanofi; and the Australian series was supported by the National Health and Medical Research Council of Australia, Thyne-Reid Charitable Trusts, and the MS McLeod Research Fund. We thank the Infantile Epileptic Encephalopathy Referral Consortium as acknowledged by Harkin et al., 2007 for referral of the infantile encephalopathy patients.