A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism.
Gupta HV, Vengoechea J, Sahaya K, Virmani T. A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism. Parkinsonism Relat Disord. 2015 Dec; 21(12):1473-5.