De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

V-type proton (H(+)) ATPase (v-ATPase) is a multi-subunit proton pump that regulates pH homeostasis in all eukaryotic cells; in neurons, v-ATPase plays additional and unique roles in synapse function. Through whole exome sequencing, we identified de novo heterozygous mutations (p.Pro27Arg, p.Asp100T...

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Detalles Bibliográficos
Autores principales: Fassio, Anna, Esposito, Alessandro, Kato, Mitsuhiro, Saitsu, Hirotomo, Mei, Davide, Marini, Carla, Conti, Valerio, Nakashima, Mitsuko, Okamoto, Nobuhiko, Olmez Turker, Akgun, Albuz, Burcu, Semerci Gündüz, C Nur, Yanagihara, Keiko, Belmonte, Elisa, Maragliano, Luca, Ramsey, Keri, Balak, Chris, Siniard, Ashley, Narayanan, Vinodh, Ohba, Chihiro, Shiina, Masaaki, Ogata, Kazuhiro, Matsumoto, Naomichi, Benfenati, Fabio, Guerrini, Renzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972584/
https://www.ncbi.nlm.nih.gov/pubmed/29668857
http://dx.doi.org/10.1093/brain/awy092

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972584/
https://www.ncbi.nlm.nih.gov/pubmed/29668857
http://dx.doi.org/10.1093/brain/awy092

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