Hirose S - Search Results

1

A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features.

Okumura A, Maruyama K, Shibata M, Kurahashi H, Ishii A, Numoto S, Hirose S, Kawai T, Iso M, Kataoka S, Okuno Y, Muramatsu H, Kojima S. Okumura A, et al. Among authors: hirose s. Brain Dev. 2018 Nov;40(10):926-930. doi: 10.1016/j.braindev.2018.06.005. Epub 2018 Jun 21. Brain Dev. 2018. PMID: 29935962

2

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.

Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S. Wang JW, et al. Among authors: hirose s. Epilepsia. 2008 Sep;49(9):1528-34. doi: 10.1111/j.1528-1167.2008.01609.x. Epub 2008 Apr 21. Epilepsia. 2008. PMID: 18479393 Free article.

3

Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus.

Kumakura A, Ito M, Hata D, Oh N, Kurahashi H, Wang JW, Hirose S. Kumakura A, et al. Among authors: hirose s. Brain Dev. 2009 Feb;31(2):179-82. doi: 10.1016/j.braindev.2008.06.001. Epub 2008 Jul 15. Brain Dev. 2009. PMID: 18632234

4

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.

Ishii A, Fukuma G, Uehara A, Miyajima T, Makita Y, Hamachi A, Yasukochi M, Inoue T, Yasumoto S, Okada M, Kaneko S, Mitsudome A, Hirose S. Ishii A, et al. Among authors: hirose s. Brain Dev. 2009 Jan;31(1):27-33. doi: 10.1016/j.braindev.2008.05.010. Epub 2008 Jul 21. Brain Dev. 2009. PMID: 18640800

5

Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC).

Sugiura Y, Nakatsu F, Hiroyasu K, Ishii A, Hirose S, Okada M, Jibiki I, Ohno H, Kaneko S, Ugawa Y. Sugiura Y, et al. Among authors: hirose s. Epilepsy Res. 2009 Mar;84(1):82-5. doi: 10.1016/j.eplepsyres.2008.12.003. Epub 2009 Jan 23. Epilepsy Res. 2009. PMID: 19167866

6

Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy.

Sakakibara T, Nakagawa E, Saito Y, Sakuma H, Komaki H, Sugai K, Sasaki M, Kurahashi H, Hirose S. Sakakibara T, et al. Among authors: hirose s. Epilepsia. 2009 Sep;50(9):2158-62. doi: 10.1111/j.1528-1167.2009.02175.x. Epub 2009 Jun 26. Epilepsia. 2009. PMID: 19563349 Free article.

7

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. Among authors: hirose s. 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

8

Positive association between benign familial infantile convulsions and LGI4.

Ishii A, Zhang B, Kaneko S, Hirose S. Ishii A, et al. Among authors: hirose s. Brain Dev. 2010 Aug;32(7):538-43. doi: 10.1016/j.braindev.2009.09.006. Epub 2009 Oct 7. Brain Dev. 2010. PMID: 19815358

9

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. Among authors: hirose s. 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

10

A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency.

Yamakawa Y, Nakazawa T, Ishida A, Saito N, Komatsu M, Matsubara T, Obinata K, Hirose S, Okumura A, Shimizu T. Yamakawa Y, et al. Among authors: hirose s. Brain Dev. 2012 Feb;34(2):107-12. doi: 10.1016/j.braindev.2011.05.003. Epub 2011 May 25. Brain Dev. 2012. PMID: 21612881

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