SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

doi:10.1111/j.1528-1167.2009.02013.x

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Article

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

Epilepsia - 1 Jul 2009

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 excerpt

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...

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PMID: 19400878
DOI: 10.1111/j.1528-1167.2009.02013.x

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