Although RELN has been associated with brain malformations and autosomal dominant lateral temporal lobe epilepsy, one of two APEs with RELN p.Thr1904Met variants had hippocampal sclerosis, one of the main pathological feature of mesial temporal lobe epilepsy, and the other had typical dermatological and radiological features of TS but the genetic test for TSC1 or TSC2 was negative. The gene discussed is RELN; the disease is cerebral malformation.