PRRT2 and self-limited familial infantile epilepsy: In the credible intervals of the remaining CNV regions, we identified the following known disease genes: (i) the haploinsufficient KIF26B gene (Pontocerebellar hypoplasia42) as the only gene affected by the 1q44 deletion, and (ii) PRRT2 (self-limited familial infantile epilepsy, paroxysmal dyskinesia43) and the haploinsufficient TAOK2 gene (Autism44) at the 16p11.2 BP4-BP5 deletion syndrome locus.