Article
Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome.
Journal of human genetics - 1 Jun 2016
Maeda Hiroshi, Chiyonobu Tomohiro, Yoshida Michiko, Yamashita Satoshi, Zuiki Masashi, Kidowaki Satoshi, Isoda Kenichi, Yamakawa Kazuhiro, Morimoto Masafumi, Nakahata Tatsutoshi, Saito Megumu K, Hosoi Hajime
Abstract excerpt
Dravet syndrome (DS) is a severe childhood epilepsy typically caused by de novo dominant mutations in SCN1A. Although patients with DS frequently have neurocognitive abnormalities, the precise neural mechanisms responsible for their expression have not been elucidated. There are wide phenotypic differences among individuals with SCN1A mutations, suggesting that factors other than the SCN1A mutation modify the...
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