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Prolonged Sporadic Hemiplegic Migraine Associated With a Novel De Novo Missense ATP1A2 Gene Mutation

โœ Scribed by Sara De Sanctis; Gaetano Salvatore Grieco; Luciana Breda; Carlo Casali; Manuela Nozzi; Marianna Del Torto; Francesco Chiarelli; Alberto Verrotti


Book ID
109100931
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
182 KB
Volume
51
Category
Article
ISSN
0017-8748

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Two missense mutations and a nine-nucleotide deletion of the cardiac sodium channel (SCN5A) gene have been shown to cause long QT syndrome (LQTS) in sev eral familial cases. We identified a novel missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic LQTS. We used polymerase c