On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation.
This study examines whether microdeletions and duplications of the gene encoding α1 subunit of the sodium channel (SCN1A) are underlying causes in Dravet syndrome (DS) with SCN1A missense mutation. Multiple exonic deletions were identified in 8/84 patients without mutation and 0/41 patients with missense mutations. Our findings indicate that while microdeletions are not rare in SCN1A-negative patients, they are not likely to be present simultaneously with other SCN1A mutations.
Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
Xiuyu
X
Shi
Jiwen
J
Wang
Hirokazu
H
Kurahashi
Atsushi
A
Ishii
Norimichi
N
Higurashi
Sunao
S
Kaneko
Shinichi
S
Hirose
D004831:Epilepsies, Myoclonic / Q000235:genetics*; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D020125:Mutation, Missense; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D016133:Polymerase Chain Reaction
D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human