The findings in this paper represent the first genetic & functional evidence for an association between GABRA4 & a neurodevelopmental disorder with epilepsy. Congratulations to one of the first authors of this paper, MolTag PhD student Florian Vogel, group of Margot Ernst at Medizinische Universität Wien.
Vogel FD, Krenn M, Westphal DS, Graf E, Wagner M, Leiz S, et al. A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype. Epilepsia. 2022;00:1– 7. doi.org/10.1111/epi.17188
