Article
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
American journal of human genetics - 11 Jun 2010
Saitsu Hirotomo, Tohyama Jun, Kumada Tatsuro, Egawa Kiyoshi, Hamada Keisuke, Okada Ippei, Mizuguchi Takeshi, Osaka Hitoshi, Miyata Rie, Furukawa Tomonori, Haginoya Kazuhiro, Hoshino Hideki, Goto Tomohide, Hachiya Yasuo, Yamagata Takanori, Saitoh Shinji, Nagai Toshiro, Nishiyama Kiyomi, Nishimura Akira, Miyake Noriko, Komada Masayuki, Hayashi Kenji, Hirai Syu-Ichi, Ogata Kazuhiro, Kato Mitsuhiro, Fukuda Atsuo, Matsumoto Naomichi
Abstract excerpt
A de novo 9q33.3-q34.11 microdeletion involving STXBP1 has been found in one of four individuals (group A) with early-onset West syndrome, severe hypomyelination, poor visual attention, and developmental delay. Although haploinsufficiency of STXBP1 was involved in early infantile epileptic encephalopathy in a previous different cohort study (group B), no mutations of STXBP1 were found in two of the remaining...
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