We aimed to determine the type, frequency, and size of microchromosomal copy number variations (CNVs) affecting the neuronal sodium channel alpha 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).
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis / Marini C; Scheffer IE; Nabbout R; Mei D; Cox K; Dibbens LM; McMahon JM; Iona X; Carpintero RS; Elia M; Cilio MR; Specchio N; Giordano L; Striano P; Gennaro E; Cross JH; Kivity S; Neufeld MY; Afawi Z; Andermann E; Keene D; Dulac O; Zara F; Berkovic SF; Guerrini R; Mulley JC.. - In: EPILEPSIA. - ISSN 0013-9580. - STAMPA. - 50 (7):(2009), pp. 1670-1678. [10.1111/j.1528-1167.2009.02013.x]
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
Marini C;GUERRINI, RENZO;
2009
Abstract
We aimed to determine the type, frequency, and size of microchromosomal copy number variations (CNVs) affecting the neuronal sodium channel alpha 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).
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