Nakashima, Mitsuko

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Saitsu, H., Nishimura, T., Muramatsu, K., Kodera, H., Kumada, S., Sugai, K., Kasai-Yoshida, E., Sawaura, N., Nishida, H., Hoshino, A., et al. (2013) · Nature Genetics

Neurological diseases and metabolismAutophagy in Disease and Therapy

Cited by 474

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

Early onset epileptic encephalopathy caused by de novo SCN 8A mutations

Ohba, C., Kato, M., Takahashi, S., Lerman‐Sagie, T., Lev, D., Terashima, H., Kubota, M., Kawawaki, H., Matsufuji, M., Kojima, Y., et al. (2014) · Epilepsia

Epilepsy research and treatmentIon channel regulation and function

Cited by 158

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

De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

Nakashima, M., Kato, M., Aoto, K., Shiina, M., Belal, H., Mukaida, S., Kumada, S., Sato, A., Zerem, A., Lerman‐Sagie, T., et al. (2018) · Annals of Neurology

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 80

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism

Hiraide, T., Nakashima, M., Yamoto, K., Fukuda, T., Kato, M., Ikeda, H., Sugie, Y., Aoto, K., Kaname, T., Nakabayashi, K., et al. (2018) · Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Assoum, M., Philippe, C., Isidor, B., Perrin, L., Makrythanasis, P., Sondheimer, N., Paris, C., Douglas, J., Lesca, G., Antonarakis, S., et al. (2016) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 65

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome

Bayam, E., Tilly, P., Collins, S. C., Rivera Alvarez, J., Kannan, M., Tonneau, L., Brivio, E., Rinaldi, B., Lecat, R., Schwaller, N., et al. (2025) · EMBO Molecular Medicine

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 2