Tohyama, Jun

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

Nakamura, K., Kato, M., Osaka, H., Yamashita, S., Nakagawa, E., Haginoya, K., Tohyama, J., Okuda, M., Wada, T., Shimakawa, S., et al. (2013) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 201

De novo variants in CAMK 2A and CAMK 2B cause neurodevelopmental disorders

Akita, T., Aoto, K., Kato, M., Shiina, M., Mutoh, H., Nakashima, M., Kuki, I., Okazaki, S., Magara, S., Shiihara, T., et al. (2018) · Annals of Clinical and Translational Neurology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 87

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

Kobayashi, Y., Tohyama, J., Kato, M., Akasaka, N., Magara, S., Kawashima, H., Ohashi, T., Shiraishi, H., Nakashima, M., Saitsu, H., et al. (2016) · Brain and Development

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 84

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

Saitsu, H., Tohyama, J., Walsh, T., Kato, M., Kobayashi, Y., Lee, M., Tsurusaki, Y., Miyake, N., Goto, Y.-I., Nishino, I., et al. (2014) · Journal of Human Genetics

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 57