Accepted for Publication: October 1, 2012.
Published Online: April 29, 2013. doi:10.1001/jamaneurol.2013.1174
Author Contributions: Dr Kumar and Ms Arif contributed equally to the work. Study concept and design: Arif, Fatima, P. Nürnberg, Klein, Naz, and Lohmann. Acquisition of data: Arif, Kumar, Vulinovic, Winkler, Thiele, P. Nürnberg, Jamil, Abbas, Naz, and Lohmann. Analysis and interpretation of data: Arif, Kumar, Seibler, G. Nürnberg, Thiele, P. Nürnberg, Brüggemann, Klein, Naz, and Lohmann. Drafting of the manuscript: Arif, Kumar, Klein, Naz, and Lohmann. Critical revision of the manuscript for important intellectual content: Arif, Seibler, Vulinovic, Fatima, Winkler, G. Nürnberg, Thiele, P. Nürnberg, Jamil, Brüggemann, Abbas, and Naz. Statistical analysis: Arif, Kumar, G. Nürnberg, Thiele, P. Nürnberg, and Lohmann. Obtained funding: Klein, Naz, and Lohmann. Administrative, technical, and material support: Vulinovic, Winkler, Thiele, Brüggemann, and Naz. Study supervision: Klein, Naz, and Lohmann.
Conflict of Interest Disclosures: None reported.
Funding/Support: This study was supported by the Higher Education Commission of Pakistan.
Additional Contributions: We thank the family for participating in this research. Arif Ali, MBBS, RMP, FCPS-I, assisted with the physical examination of the patients. Susanne Motameny, PhD, provided technical support in retrieving and analyzing data for exome sequencing.