Yamakawa, Kazuhiro

Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation

Ogiwara, I., Miyamoto, H., Morita, N., Atapour, N., Mazaki, E., Inoue, I., Takeuchi, T., Itohara, S., Yanagawa, Y., Obata, K., et al. (2007) · The Journal of Neuroscience

Epilepsy research and treatmentIon channel regulation and function

Cited by 879

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

Kushima, I., Aleksic, B., Nakatochi, M., Shimamura, T., Okada, T., Uno, Y., Morikawa, M., Ishizuka, K., Shiino, T., Kimura, H., et al. (2018) · Cell Reports

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 251

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

Cited by 205

A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline

Kamiya, K., Kaneda, M., Sugawara, T., Mazaki, E., Okamura, N., Montal, M., Makita, N., Tanaka, M., Fukushima, K., Fujiwara, T., et al. (2004) · The Journal of Neuroscience

Epilepsy research and treatmentIon channel regulation and function

Cited by 199

Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures

Tomioka, N. H., Yasuda, H., Miyamoto, H., Hatayama, M., Morimura, N., Matsumoto, Y., Suzuki, T., Odagawa, M., Odaka, Y. S., Iwayama, Y., et al. (2014) · Nature Communications

Neuroscience and Neuropharmacology ResearchEpilepsy research and treatment

Cited by 113

Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.

Puri, R., Suzuki, T., Yamakawa, K., & Ganesh, S. (2009) · Journal of Biological Chemistry

Glycogen Storage Diseases and MyoclonusAlzheimer's disease research and treatments

Cited by 60

NaV1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: mutually exclusive distributions of NaV1.1 and NaV1.2

Yamagata, T., Ogiwara, I., Mazaki, E., Yanagawa, Y., & Yamakawa, K. (2017) · Biochemical and Biophysical Research Communications

Ion channel regulation and functionEpilepsy research and treatment

Cited by 57

Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells

Tatsukawa, T., Ogiwara, I., Mazaki, E., Shimohata, A., & Yamakawa, K. (2018) · Neurobiology of Disease

Epilepsy research and treatmentIon channel regulation and function

Cited by 47

Alterations of in vivo CA1 network activity in Dp(16)1Yey Down syndrome model mice

Raveau, M., Polygalov, D., Boehringer, R., Amano, K., Yamakawa, K., & McHugh, T. J. (2018) · eLife

Down syndrome and intellectual disability researchMemory and Neural Mechanisms

Cited by 32

De novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Dias, K.-R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C.-A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., et al. (2022) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 13