Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

Voltage-gated calcium (Ca(V)) channels form three subfamilies (Ca(V)1–3). The Ca(V)1 and Ca(V)2 channels are heteromeric, consisting of an α(1) pore-forming subunit, associated with auxiliary Ca(V)β and α(2)δ subunits. The α(2)δ subunits are encoded in mammals by four genes, CACNA2D1–4. They play im...

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Detalles Bibliográficos
Autores principales: Dahimene, Shehrazade, von Elsner, Leonie, Holling, Tess, Mattas, Lauren S, Pickard, Jess, Lessel, Davor, Pilch, Kjara S, Kadurin, Ivan, Pratt, Wendy S, Zhulin, Igor B, Dai, Hongzheng, Hempel, Maja, Ruzhnikov, Maura R Z, Kutsche, Kerstin, Dolphin, Annette C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9420018/
https://www.ncbi.nlm.nih.gov/pubmed/35293990
http://dx.doi.org/10.1093/brain/awac081

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9420018/
https://www.ncbi.nlm.nih.gov/pubmed/35293990
http://dx.doi.org/10.1093/brain/awac081

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