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A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome

Nourhène Fendri-Kriaa, Salma Boujilbene, Fatma Kammoun, Emna Mkaouar-Rebai, Afif Ben Mahmoud, Ines Hsairi, Ahmed Rebai, Chahnez Triki, and Faiza Fakhfakh

Biochem Biophys Res Commun 408(4):4 (2011) PMID 21531204

Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy, is one of the most severe forms of childhood epilepsy. DS is caused by a mutation in the neuronal voltage-gated sodium-channel alpha-subunit gene (SCN1A). However, 25-30% of patients with DS are negative for the SCN1A mutation screening, suggesting that other molecular mechanisms may account for these disorders. Recently, the first case of DS caused by a mutation in the neuronal voltage-gated sodium-channel beta-subunit gene (SCN1B) was also reported. In this report we aim to make the molecular analysis of the SCN1A and SCN1B genes in two Tunisian patients affected with DS. The SCN1A and SCN1B genes were tested for mutations by direct sequencing. No mutation was revealed in the SCN1A and SCN1B genes by sequencing analyses. On the other hand, 11 known single nucleotide polymorphisms were identified in the SCN1A gene and composed a putative disease-associated haplotype in patients with DS phenotype. One of the two patients with putative disease-associated haplotype in SCN1A had also one known single nucleotide polymorphism in the SCN1B gene. The sequencing analyses of the SCN1A gene revealed the presence of a putative disease-associated haplotype in two patients affected with Dravet syndrome.

Copyright © 2011 Elsevier Ltd. All rights reserved.

DOI: 10.1016/j.bbrc.2011.04.079
Version: za2963e q8za7 q8zb4 q8zc1 q8zdf q8zee q8zf1 q8zg5

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