A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism

Parkinsonism Relat Disord. 2015 Dec;21(12):1473-5. doi: 10.1016/j.parkreldis.2015.10.001. Epub 2015 Oct 8.

¹ Department of Neurology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Slot # 500, Little Rock, AR 72205, USA. Electronic address: dr.harshgupta@gmail.com.
² Division of Genetics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. Electronic address: jevengoecheabarrios@uams.edu.
³ Department of Neurology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Little Rock, AR 72205, USA. Electronic address: ksahaya@uams.edu.
⁴ Department of Neurology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Little Rock, AR 72205, USA. Electronic address: tvirmani@uams.edu.

No abstract available

Keywords: ATP6AP2; Epilepsy; Intellectual disability; Parkinsonism.

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