Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

Neurochondrin (NCDN) is a cytoplasmatic neural protein of importance for neural growth, glutamate receptor (mGluR) signaling, and synaptic plasticity. Conditional loss of Ncdn in mice neural tissue causes depressive-like behaviors, impaired spatial learning, and epileptic seizures. We report on NCDN...

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Pubblicato in:Am J Hum Genet
Autori principali: Fatima, Ambrin, Hoeber, Jan, Schuster, Jens, Koshimizu, Eriko, Maya-Gonzalez, Carolina, Keren, Boris, Mignot, Cyril, Akram, Talia, Ali, Zafar, Miyatake, Satoko, Tanigawa, Junpei, Koike, Takayoshi, Kato, Mitsuhiro, Murakami, Yoshiko, Abdullah, Uzma, Ali, Muhammad Akhtar, Fadoul, Rein, Laan, Loora, Castillejo-López, Casimiro, Liik, Maarika, Jin, Zhe, Birnir, Bryndis, Matsumoto, Naomichi, Baig, Shahid M., Klar, Joakim, Dahl, Niklas
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2021
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8059333/
https://ncbi.nlm.nih.gov/pubmed/33711248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2021.02.015
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