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- Title
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
- Authors
Marini, Carla; Scheffer, Ingrid E; Nabbout, Rima; Mei, Davide; Cox, Kathy; Dibbens, Leanne M; McMahon, Jacinta M; Iona, Xenia; Carpintero, Rochio Sanchez; Elia, Maurizio; Cilio, Maria Roberta; Specchio, Nicola; Giordano, Lucio; Striano, Pasquale; Gennaro, Elena; Cross, J Helen; Kivity, Sara; Neufeld, Miriam Y; Afawi, Zaid; Andermann, Eva; Keene, Daniel; Dulac, Olivier; Zara, Federico; Berkovic, Samuel F; Guerrini, Renzo; Mulley, John C
- Abstract
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+).
- Publication
Epilepsia, 2009, Vol 50, Issue 7, p1670
- ISSN
1528-1167
- Publication type
Journal Article
- DOI
10.1111/j.1528-1167.2009.02013.x