Article
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Human genetics - 1 Jun 2015
Hino-Fukuyo Naomi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, Niihori Tetsuya, Sato Ryo, Suzuki Tasuku, Kudo Hiroki, Sato Yuko, Nakayama Tojo, Kakisaka Yosuke, Kubota Yuki, Kobayashi Tomoko, Funayama Ryo, Nakayama Keiko, Uematsu Mitsugu, Aoki Yoko, Haginoya Kazuhiro, Kure Shigeo
Abstract excerpt
West syndrome, which is narrowly defined as infantile spasms that occur in clusters and hypsarrhythmia on EEG, is the most common early-onset epileptic encephalopathy (EOEE). Patients with West syndrome may have clear etiologies, including perinatal events, infections, gross chromosomal abnormalities, or cases followed by other EOEEs. However, the genetic etiology of most cases of West syndrome remains...
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