NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor
Kunihiko Araki, Ryoichi Nakamura, Daisuke Ito, Kohji Kato, Yohei Iguchi, Kentaro Sahashi, Miho Toyama, K Hamada, Nobuhiko Okamoto, Yoshinao Wada, Tomohiko Nakamura, Tomoo Ogi, Masahisa Katsuno
Topics & Concepts
EpilepsyAtaxiaFrameshift mutationCerebellar ataxiaGeneralized epilepsyParkinsonismMutationMedicineDystoniaEpilepsy syndromesMyoclonusEssential tremorPediatricsGeneticsPathologyPsychiatryBiologyDiseaseGeneRNA and protein synthesis mechanismsCRISPR and Genetic EngineeringRNA Research and Splicing