Shi X - Search Results

1

PCDH19 mutation in Japanese females with epilepsy.

Higurashi N, Shi X, Yasumoto S, Oguni H, Sakauchi M, Itomi K, Miyamoto A, Shiraishi H, Kato T, Makita Y, Hirose S. Higurashi N, et al. Among authors: shi x. Epilepsy Res. 2012 Mar;99(1-2):28-37. doi: 10.1016/j.eplepsyres.2011.10.014. Epub 2011 Nov 1. Epilepsy Res. 2012. PMID: 22050978

2

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

Shi X, Yasumoto S, Nakagawa E, Fukasawa T, Uchiya S, Hirose S. Shi X, et al. Brain Dev. 2009 Nov;31(10):758-62. doi: 10.1016/j.braindev.2009.08.009. Epub 2009 Sep 23. Brain Dev. 2009. PMID: 19783390

3

Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

Shi X, Huang MC, Ishii A, Yoshida S, Okada M, Morita K, Nagafuji H, Yasumoto S, Kaneko S, Kojima T, Hirose S. Shi X, et al. J Hum Genet. 2010 Jun;55(6):375-8. doi: 10.1038/jhg.2010.47. Epub 2010 May 20. J Hum Genet. 2010. PMID: 20485450

4

The developmental changes of Na(v)1.1 and Na(v)1.2 expression in the human hippocampus and temporal lobe.

Wang W, Takashima S, Segawa Y, Itoh M, Shi X, Hwang SK, Nabeshima K, Takeshita M, Hirose S. Wang W, et al. Among authors: shi x. Brain Res. 2011 May 10;1389:61-70. doi: 10.1016/j.brainres.2011.02.083. Epub 2011 Mar 4. Brain Res. 2011. PMID: 21377452

5

Clinical spectrum of SCN2A mutations.

Shi X, Yasumoto S, Kurahashi H, Nakagawa E, Fukasawa T, Uchiya S, Hirose S. Shi X, et al. Brain Dev. 2012 Aug;34(7):541-5. doi: 10.1016/j.braindev.2011.09.016. Epub 2011 Oct 24. Brain Dev. 2012. PMID: 22029951 Review.

6

On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation.

Shi X, Wang J, Kurahashi H, Ishii A, Higurashi N, Kaneko S, Hirose S. Shi X, et al. Brain Dev. 2012 Sep;34(8):617-9. doi: 10.1016/j.braindev.2011.11.005. Epub 2011 Dec 27. Brain Dev. 2012. PMID: 22206733

7

Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.

Lossin C, Shi X, Rogawski MA, Hirose S. Lossin C, et al. Among authors: shi x. Neurobiol Dis. 2012 Sep;47(3):378-84. doi: 10.1016/j.nbd.2012.05.017. Epub 2012 Jun 4. Neurobiol Dis. 2012. PMID: 22677033

8

Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

Wang JW, Shi XY, Kurahashi H, Hwang SK, Ishii A, Higurashi N, Kaneko S, Hirose S; Epilepsy Genetic Study Group Japan. Wang JW, et al. Epilepsy Res. 2012 Dec;102(3):195-200. doi: 10.1016/j.eplepsyres.2012.06.006. Epub 2012 Jul 20. Epilepsy Res. 2012. PMID: 23195492

9

Properties of a novel GABAA receptor γ2 subunit mutation associated with seizures.

Migita K, Yamada J, Nikaido Y, Shi X, Kaneko S, Hirose S, Ueno S. Migita K, et al. Among authors: shi x. J Pharmacol Sci. 2013;121(1):84-7. doi: 10.1254/jphs.12222sc. Epub 2012 Dec 21. J Pharmacol Sci. 2013. PMID: 23257655 Free article.

10

Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner.

Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Lossin C, Baram TZ, Hirose S. Nakamura Y, et al. Among authors: shi x. PLoS One. 2013 Dec 4;8(12):e80376. doi: 10.1371/journal.pone.0080376. eCollection 2013. PLoS One. 2013. PMID: 24324597 Free PMC article.

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