Osaka, H.

De novo mutations of voltage-gated sodium channel α II gene SCN2A in intractable epilepsies

Ogiwara, I., Ito, K., Sawaishi, Y., Osaka, H., Mazaki, E., Inoue, I., Montal, M., Hashikawa, T., Shike, T., Fujiwara, T., et al. (2009) · Neurology

Epilepsy research and treatmentIon channel regulation and function

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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

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., et al. (2013) · Journal of Medical Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 164

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

Kojima, K., Nakajima, T., Taga, N., Miyauchi, A., Kato, M., Matsumoto, A., Ikeda, T., Nakamura, K., Kubota, T., Mizukami, H., et al. (2019) · Brain

Virus-based gene therapy researchLysosomal Storage Disorders Research

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Genotype–phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

van de Kamp, J. M., Errami, A., Howidi, M., Anselm, I., Winter, S., Phalin‐Roque, J., Osaka, H., van Dooren, S. J. M., Mancini, G. M., Steinberg, S. J., et al. (2015) · Clinical Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

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