DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A
Akane Terasaki, Masayuki Nakamura, Yuka Urata, Hanae Hiwatashi, Izumi Yokoyama, Takeshi Yasuda, Teiichi Onuma, Kazumaru Wada, Sunao Kaneko, Rumiko Kan, Shin‐Ichi Niwa, Ohiko Hashimoto, Osamu Komure, Yu‐ichi Goto, Yuko Yamagishi, Misa Nakano, Yoshihiko Furusawa, Akira Sano
Topics & Concepts
Pedigree chartTrinucleotide repeat expansionProgressive myoclonus epilepsyAlleleGeneticsPolymerase chain reactionSouthern blotBiologyEpilepsyNonsense mutationMutationMedicineDNAGeneMissense mutationNeuroscienceGlycogen Storage Diseases and MyoclonusGenetics and Neurodevelopmental DisordersNeurological disorders and treatments