Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
Dahimene S, von Elsner L, Holling T, Mattas LS, Pickard J, Lessel D, Pilch KS, Kadurin I, Pratt WS, Zhulin IB, et al. Brain. 2022 Aug 27; 145(8):2721-2729.