Citations for
1EIEE78, GABRA2
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Maljevic S, Keren B, Aung YH, Forster IC, Mignot C, Buratti J, Lafitte A, Freihuber C, Rodan LH, Bergin A, Hubert L, Poirier K, Munnich A, Besmond C, Hauser N, Miller R, McWalter K, Nabbout R, Héron D, Leguern E, Depienne C, Petrou S, Nava C.
Brain May 1;142(5):e15. doi: 10.1093/brain/awz079 2019
2EIEE78, EIEE79, GABRA2, GABRA5
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy
Butler KM, Moody OA, Schuler E, Coryell J, Alexander JJ, Jenkins A, Escayg A.
Brain Aug 1;141(8):2392-2405. doi: 10.1093/brain/awy171. 2018
3EIEE78, GABRA2
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder
Orenstein N, Goldberg-Stern H, Straussberg R, Bazak L, Weisz Hubshman M, Kropach N, Gilad O, Scheuerman O, Dory Y, Kraus D, Tzur S, Magal N, Kilim Y, Shkalim Zemer V, Basel-Salmon L.
Eur J Paediatr Neurol. May;22(3):516-524. doi: 10.1016/j.ejpn.2017.12.017. Epub 2017 Dec 30 2018