De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA, Gradisch R, Vogel FD, Coffey AJ, Salyakina D, Soler D, Jayakar P, Jayakar A, Bianconi SE, Cooper AH, Liu S, William N, Benkel-Herrenbrück I, Maiwald R, Heller C, Biskup S, Leiz S, Westphal DS, Wagner M, Clarke A, Stockner T, Ernst M, Kesari A, Krenn M.
Sajan SA, et al. Among authors: soler d.
Eur J Hum Genet. 2024 Apr 2. doi: 10.1038/s41431-024-01600-3. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38565639