Missense heterozygous mutations in the contactin-associated protein-like 2 (CNTNAP2) are implicated in cortical dysplasia-focal epilepsy (CFDE) syndrome and are associated with epilepsy, seizures, attention-deficit hyperactivity disorder (ADHD) and ASD (Strauss et al., 2006; Elia et al., 2010; Mefford et al., 2010; Rodenas-Cuadrado et al., 2014). The gene discussed is CNTNAP2; the disease is epilepsy.