Citations for
1GABBR2, NDPLHS
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype
Vuillaume ML, Jeanne M, Xue L, Blesson S, Denommé-Pichon AS, Alirol S, Brulard C, Colin E, Isidor B, Gilbert-Dussardier B, Odent S, Parent P, Donnart A, Redon R, Bézieau S, Rondard P, Laumonnier F, Toutain A.
Ann Neurol. Feb;83(2):437-439. doi: 10.1002/ana.25155. Epub 2018 Feb 7. 2018
2EIEE59, GABBR2, NDPLHS
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilgüvar K, Mane S, Kim KJ, Hwang YS, Lee SG, So I, Lim BC, Choi HJ, Seong JY, Shin YB, Jung H, Chae JH, Choi M.
Ann Neurol. Sep;82(3):466-478. doi: 10.1002/ana.25032. 2017