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Jun Tohyama

Showing results (81-90 of 102) with videos related to

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Human Genetics|January 15, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variantKohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, et al.
Epilepsia|April 14, 2015
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disordersChihiro Ohba, Masaaki Shiina, Jun Tohyama, et al.
Brain & Development|January 13, 2021
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variantsYu Kobayashi, Jun Tohyama, Yukitoshi Takahashi, et al.
Brain & Development|January 26, 2005
Multi-institutional study on the correlation between chromosomal abnormalities and epilepsyTomohiro Kumada, Masatoshi Ito, Tomoko Miyajima, et al.
Epilepsia|July 4, 2015
De novo KCNT1 mutations in early-onset epileptic encephalopathyChihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, et al.
Seizure|June 3, 2019
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesiaAkihisa Okumura, Keiko Shimojima, Hirokazu Kurahashi, et al.
Nature Communications|April 9, 2021
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H<sup>+</sup>-ATPases is essential for brain development in humans and miceKazushi Aoto, Mitsuhiro Kato, Tenpei Akita, et al.
American Journal of Human Genetics|March 15, 2020
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic EpilepsyKohei Hamanaka, Eri Imagawa, Eriko Koshimizu, et al.
American Journal of Human Genetics|September 3, 2013
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathyKazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita, et al.
American Journal of Human Genetics|May 25, 2010
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delayHirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, et al.
Pageof 11

Showing results (81-90 of 102) with videos related to

Sort By:
Pageof 11
Human Genetics|January 15, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variantKohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, et al.
Epilepsia|April 14, 2015
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disordersChihiro Ohba, Masaaki Shiina, Jun Tohyama, et al.
Brain & Development|January 13, 2021
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variantsYu Kobayashi, Jun Tohyama, Yukitoshi Takahashi, et al.
Brain & Development|January 26, 2005
Multi-institutional study on the correlation between chromosomal abnormalities and epilepsyTomohiro Kumada, Masatoshi Ito, Tomoko Miyajima, et al.
Epilepsia|July 4, 2015
De novo KCNT1 mutations in early-onset epileptic encephalopathyChihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, et al.
Seizure|June 3, 2019
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesiaAkihisa Okumura, Keiko Shimojima, Hirokazu Kurahashi, et al.
Nature Communications|April 9, 2021
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H<sup>+</sup>-ATPases is essential for brain development in humans and miceKazushi Aoto, Mitsuhiro Kato, Tenpei Akita, et al.
American Journal of Human Genetics|March 15, 2020
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic EpilepsyKohei Hamanaka, Eri Imagawa, Eriko Koshimizu, et al.
American Journal of Human Genetics|September 3, 2013
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathyKazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita, et al.
American Journal of Human Genetics|May 25, 2010
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delayHirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, et al.
Pageof 11