Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
Palmer EE, Jarrett KE, Sachdev RK, Al Zahrani F, Hashem MO, Ibrahim N, Sampaio H, Kandula T, Macintosh R, Gupta R, et al. Hum Mol Genet. 2016 Jul 15; 25(14):3042-3054. Epub 2016 Jun 6.