Article
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.
Epilepsia - 1 Dec 2010
Krepischi Ana Cristina Victorino, Knijnenburg Jeroen, Bertola Debora Romeo, Kim Chong Ae, Pearson Peter Lees, Bijlsma Emilia, Szuhai Karoly, Kok Fernando, Vianna-Morgante Angela Maria, Rosenberg Carla
Abstract excerpt
Approximately 50% of all carriers of 2q21-q31 deletions present epileptic seizures. The band 2q24 constitutes the smallest commonly deleted segment in these patients, and contains the voltage-gated sodium channel genes SCN1A and SCN2A, associated with Dravet syndrome and benign familial neonatal-infantile seizures, respectively. A further putative locus involving epilepsy in the region was previously identified...
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