De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy
Kohei Hamanaka, Eri Imagawa, Eriko Koshimizu, Satoko Miyatake, Jun Tohyama, Takanori Yamagata, Akihiko Miyauchi, Nina Ekhilevitch, Fumio Nakamura, Takeshi Kawashima, Yoshio Goshima, Ahmad Rithauddin Mohamed, Gaik-Siew Ch’ng, Atsushi Fujita, Yoshiteru Azuma, Ken Yasuda, Shintaro Imamura, Mitsuko Nakashima, Hirotomo Saitsu, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto
Topics & Concepts
EpilepsyExonGeneticsProgressive myoclonus epilepsyMyoclonic epilepsyMedicineBiologyGenePsychiatryGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesGlycogen Storage Diseases and Myoclonus