ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.

NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

Novel MECP2 Mutation c.1162_1172del p.Pro388 in Two Patients with Symptoms of Atypical Rett Syndrome.

Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression