Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family

Seizure. 2017 Oct:51:200-203. doi: 10.1016/j.seizure.2017.08.012. Epub 2017 Sep 1.

¹ Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan.
² Department of Biology and Institute of Basic Sciences, Sungshin Women's University, Seoul, Republic of Korea.
³ Department of Neurology, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
⁴ Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan. Electronic address: mnaeemqau@gmail.com.
⁵ Department of Biology and Institute of Basic Sciences, Sungshin Women's University, Seoul, Republic of Korea. Electronic address: ckang@sungshin.ac.kr.

No abstract available

Keywords: EPM2A; Lafora disease; Mutation; Whole exome sequencing.

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