Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy

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-het...

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Pubblicato in:Am J Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5985471/
https://ncbi.nlm.nih.gov/pubmed/29394991
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.01.004
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