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A homozygous mutation of voltage-gated sodium channel βI gene SCN1B in a patient with Dravet syndrome.
Published in:
Epilepsia (Series 4), 2012, v. 53, n. 12, p. e200, doi. 10.1111/epi.12040
By:
- Ogiwara, Ikuo;
- Nakayama, Tojo;
- Yamagata, Tetsushi;
- Ohtani, Hideyuki;
- Mazaki, Emi;
- Tsuchiya, Shigeru;
- Inoue, Yushi;
- Yamakawa, Kazuhiro
Publication type:
Article
Efficacy of stiripentol in hyperthermia-induced seizures in a mouse model of Dravet syndrome.
Published in:
Epilepsia (Series 4), 2012, v. 53, n. 7, p. 1140, doi. 10.1111/j.1528-1167.2012.03497.x
By:
- Cao, Dezhi;
- Ohtani, Hideyuki;
- Ogiwara, Ikuo;
- Ohtani, Sanae;
- Takahashi, Yukitoshi;
- Yamakawa, Kazuhiro;
- Inoue, Yushi
Publication type:
Article
Different degrees of loss of function between GEFS+ and SMEI Nav1.1 missense mutants at the same residue induced by rescuable folding defects.
Published in:
Epilepsia (Series 4), 2012, v. 53, n. 6, p. e111, doi. 10.1111/j.1528-1167.2012.03467.x
By:
- Sugiura, Yoshihiro;
- Ogiwara, Ikuo;
- Hoshi, Akihiko;
- Yamakawa, Kazuhiro;
- Ugawa, Yoshikazu
Publication type:
Article
SCN1A Mutation Mosaicism in a Family with Severe Myoclonic Epilepsy in Infancy.
Published in:
Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1732, doi. 10.1111/j.1528-1167.2006.00645.x
By:
- Morimoto, Masafumi;
- Mazaki, Emi;
- Nishimura, Akira;
- Chiyonobu, Tomohiro;
- Sawai, Yasuko;
- Murakami, Aki;
- Nakamura, Keiko;
- Inoue, Ikuyo;
- Ogiwara, Ikuo;
- Sugimoto, Tohru;
- Yamakawa, Kazuhiro
Publication type:
Article
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic–clonic seizures.
Published in:
Journal of Physiology, 2005, v. 569, n. 2, p. 433, doi. 10.1113/jphysiol.2005.094326
By:
- Rhodes, Thomas H.;
- Vanoye, Carlos G.;
- Ohmori, Iori;
- Ogiwara, Ikuo;
- Yamakawa, Kazuhiro;
- George Jr., Alfred L.
Publication type:
Article
Altered Cardiac Electrophysiology and SUDEP in a Model of Dravet Syndrome.
Published in:
PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077843
By:
- Auerbach, David S.;
- Jones, Julie;
- Clawson, Brittany C.;
- Offord, James;
- Lenk, Guy M.;
- Ogiwara, Ikuo;
- Yamakawa, Kazuhiro;
- Meisler, Miriam H.;
- Parent, Jack M.;
- Isom, Lori L.
Publication type:
Article
Involvement of the C‐terminal domain in cell surface localization and G‐protein coupling of mGluR6.
Published in:
Journal of Neurochemistry, 2021, v. 158, n. 4, p. 837, doi. 10.1111/jnc.15217
By:
- Rai, Dilip;
- Akagi, Takumi;
- Shimohata, Atsushi;
- Ishii, Toshiyuki;
- Gangi, Mie;
- Maruyama, Takuma;
- Wada‐Kiyama, Yuko;
- Ogiwara, Ikuo;
- Kaneda, Makoto
Publication type:
Article
Impaired cortico-striatal excitatory transmission triggers epilepsy.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09954-9
By:
- Miyamoto, Hiroyuki;
- Tatsukawa, Tetsuya;
- Shimohata, Atsushi;
- Yamagata, Tetsushi;
- Suzuki, Toshimitsu;
- Amano, Kenji;
- Mazaki, Emi;
- Raveau, Matthieu;
- Ogiwara, Ikuo;
- Oba-Asaka, Atsuko;
- Hensch, Takao K.;
- Itohara, Shigeyoshi;
- Sakimura, Kenji;
- Kobayashi, Kenta;
- Kobayashi, Kazuto;
- Yamakawa, Kazuhiro
Publication type:
Article
Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation.
Published in:
Journal of Neuroscience, 2007, v. 27, n. 22, p. 5903, doi. 10.1523/JNEUROSCI.5270-06.2007
By:
- Ogiwara, Ikuo;
- Miyamoto, Hiroyuki;
- Morita, Noriyuki;
- Atapour, Nafiseh;
- Mazaki, Emi;
- Inoue, Ikuyo;
- Takeuchi, Tamaki;
- Itohara, Shigeyoshi;
- Yanagawa, Yuchio;
- Obata, Kunihiko;
- Furuichi, Teiichi;
- Hensch, Takao K.;
- Yamakawa, Kazuhiro
Publication type:
Article
The C‐terminal domain is required for mGluR6 cell‐surface localization.
Published in:
FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.01591
By:
- Shimohata, Atsushi;
- Rai, Dilip;
- Akagi, Takumi;
- Ishii, Toshiyuki;
- Gangi, Mie;
- Maruyama, Takuma;
- Wada‐Kiyama, Yuko;
- Ogiwara, Ikuo;
- Kaneda, Makoto
Publication type:
Article
Singular localization of sodium channel β4 subunit in unmyelinated fibres and its role in the striatum.
Published in:
Nature Communications, 2014, v. 5, n. 11, p. 5525, doi. 10.1038/ncomms6525
By:
- Miyazaki, Haruko;
- Oyama, Fumitaka;
- Inoue, Ritsuko;
- Aosaki, Toshihiko;
- Abe, Takaya;
- Kiyonari, Hiroshi;
- Kino, Yoshihiro;
- Kurosawa, Masaru;
- Shimizu, Jun;
- Ogiwara, Ikuo;
- Yamakawa, Kazuhiro;
- Koshimizu, Yoshinori;
- Fujiyama, Fumino;
- Kaneko, Takeshi;
- Shimizu, Hideaki;
- Nagatomo, Katsuhiro;
- Yamada, Katsuya;
- Shimogori, Tomomi;
- Hattori, Nobutaka;
- Miura, Masami
Publication type:
Article
Scn1a-GFP transgenic mouse revealed Nav1.1 expression in neocortical pyramidal tract projection neurons.
Published in:
eLife, 2023, p. 1, doi. 10.7554/eLife.87495
By:
- Tetsushi Yamagata;
- Ikuo Ogiwara;
- Tetsuya Tatsukawa;
- Toshimitsu Suzuki;
- Yuka Otsuka;
- Nao Imaeda;
- Emi Mazaki;
- Ikuyo Inoue;
- Natsuko Tokonami;
- Yurina Hibi;
- Shigeyoshi Itohara;
- Kazuhiro Yamakawa
Publication type:
Article
Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 23, p. 4784, doi. 10.1093/hmg/ddt331
By:
- Ogiwara, Ikuo;
- Iwasato, Takuji;
- Miyamoto, Hiroyuki;
- Iwata, Ryohei;
- Yamagata, Tetsushi;
- Mazaki, Emi;
- Yanagawa, Yuchio;
- Tamamaki, Nobuaki;
- Hensch, Takao K.;
- Itohara, Shigeyoshi;
- Yamakawa, Kazuhiro
Publication type:
Article
Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.
Published in:
Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0099-2
By:
- Ogiwara, Ikuo;
- Miyamoto, Hiroyuki;
- Tatsukawa, Tetsuya;
- Yamagata, Tetsushi;
- Nakayama, Tojo;
- Atapour, Nafiseh;
- Miura, Eriko;
- Mazaki, Emi;
- Ernst, Sara J.;
- Cao, Dezhi;
- Ohtani, Hideyuki;
- Itohara, Shigeyoshi;
- Yanagawa, Yuchio;
- Montal, Mauricio;
- Yuzaki, Michisuke;
- Inoue, Yushi;
- Hensch, Takao K.;
- Noebels, Jeffrey L.;
- Yamakawa, Kazuhiro
Publication type:
Article
Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome.
Published in:
Human Mutation, 2010, v. 31, n. 7, p. 820, doi. 10.1002/humu.21275
By:
- Nakayama, Tojo;
- Ogiwara, Ikuo;
- Ito, Koichi;
- Kaneda, Makoto;
- Mazaki, Emi;
- Osaka, Hitoshi;
- Ohtani, Hideyuki;
- Inoue, Yushi;
- Fujiwara, Tateki;
- Uematsu, Mitsugu;
- Haginoya, Kazuhiro;
- Tsuchiya, Shigeru;
- Yamakawa, Kazuhiro
Publication type:
Article
Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity.
Published in:
Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0265-5
By:
- Tatsukawa, Tetsuya;
- Raveau, Matthieu;
- Ogiwara, Ikuo;
- Hattori, Satoko;
- Miyamoto, Hiroyuki;
- Mazaki, Emi;
- Itohara, Shigeyoshi;
- Miyakawa, Tsuyoshi;
- Montal, Mauricio;
- Yamakawa, Kazuhiro
Publication type:
Article

Found: 16

A homozygous mutation of voltage-gated sodium channel β<sub>I</sub> gene SCN1B in a patient with Dravet syndrome.

Efficacy of stiripentol in hyperthermia-induced seizures in a mouse model of Dravet syndrome.

Different degrees of loss of function between GEFS+ and SMEI Na<sub>v</sub>1.1 missense mutants at the same residue induced by rescuable folding defects.

SCN1A Mutation Mosaicism in a Family with Severe Myoclonic Epilepsy in Infancy.

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic–clonic seizures.

Altered Cardiac Electrophysiology and SUDEP in a Model of Dravet Syndrome.

Involvement of the C‐terminal domain in cell surface localization and G‐protein coupling of mGluR6.

Impaired cortico-striatal excitatory transmission triggers epilepsy.

Na<sub>v</sub>1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation.

The C‐terminal domain is required for mGluR6 cell‐surface localization.

Singular localization of sodium channel β4 subunit in unmyelinated fibres and its role in the striatum.

Scn1a-GFP transgenic mouse revealed Nav1.1 expression in neocortical pyramidal tract projection neurons.

Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.

Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.

Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome.

Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity.