Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 1.

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Fig. 1.

Family pedigree in an infantile convulsions and choreoathetosis family. The proband, her elder sister, and a maternal male cousin had benign familial infantile epilepsy, and her mother had paroxysmal kinesigenic dyskinesia. Whole-exome sequencing and Sanger sequencing were performed in the proband and her sister and mother, which found the novel pathogenic variant of PRRT2.

Journal of Genetic Medicine 2019;16:19-22
© 2019 Korean Society of Medical Genetics and Genomics