Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Jiang X, Raju PK, D'Avanzo N, Lachance M, Pepin J, Dubeau F, Mitchell WG, Bello-Espinosa LE, Pierson TM, Minassian BA, Lacaille JC, Rossignol E
Epilepsia. 2019 Sep;60(9):1881-1894. doi: 10.1111/epi.16316. Epub 2019 Aug 29.
(Link opens in a new window)
PubMed
(Link opens in a new window)
Article
Plasmids from Article
No plasmids are currently publicly available from Addgene for this article.