Article
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.
American journal of human genetics - 1 Feb 2018
Mutoh Hiroki, Kato Mitsuhiro, Akita Tenpei, Shibata Takuma, Wakamoto Hiroyuki, Ikeda Hiroko, Kitaura Hiroki, Aoto Kazushi, Nakashima Mitsuko, Wang Tianying, Ohba Chihiro, Miyatake Satoko, Miyake Noriko, Kakita Akiyoshi, Miyake Kensuke, Fukuda Atsuo, Matsumoto Naomichi, Saitsu Hirotomo
Abstract excerpt
Early-onset epileptic encephalopathies, including West syndrome (WS), are a group of neurological disorders characterized by developmental impairments and intractable seizures from early infancy. We have now identified biallelic CNPY3 variants in three individuals with WS; these include compound-heterozygous missense and frameshift variants in a family with two affected siblings (individuals 1 and 2) and a...
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