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Journal Of Epileptology

Original Paper | 10-June-2013

Detection of SCN1A mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array

genetic diagnosis of epilepsies in which 14 epilepsy – related genes (SCN1A, SCN1B, CHRNA4, CHRNA7, CHRNB2, GABRA1, GABRD, GABRG2, CACNB4, CLCN2, KCNQ2, KCNQ3, CACNA1A, and CACNA1H) have been mounted. Aim. The aim of the present study is to evaluate the performance of our custom array in detecting the SCN1A mutations in patients with severe myoclonic epilepsy in infancy. Material and methods. We compared mutation data generated by DNA array sequencing of DNA samples from patients with severe

Takayuki Sugawara, Shuichi Yoshida, Naoko Onodera, Kazumaru Wada, Shinichi Hirose, Sunao Kaneko

Journal of Epileptology, Volume 21 , ISSUE 1, 5–13