Ishii A - Search Results

1

Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review.

Takeda K, Miyamoto Y, Yamamoto H, Iwasaki T, Sumitomo N, Takeshita E, Ishii A, Hirose S, Shimizu N. Takeda K, et al. Among authors: ishii a. Pediatr Rep. 2022 Sep 20;14(4):386-395. doi: 10.3390/pediatric14040046. Pediatr Rep. 2022. PMID: 36278550 Free PMC article.

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: ishii a. 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

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. 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

4

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: ishii a. 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

5

Positive association between benign familial infantile convulsions and LGI4.

Ishii A, Zhang B, Kaneko S, Hirose S. Ishii A, et al. 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

6

Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures.

Kurahashi H, Wang JW, Ishii A, Kojima T, Wakai S, Kizawa T, Fujimoto Y, Kikkawa K, Yoshimura K, Inoue T, Yasumoto S, Ogawa A, Kaneko S, Hirose S. Kurahashi H, et al. Among authors: ishii a. Neurology. 2009 Oct 13;73(15):1214-7. doi: 10.1212/WNL.0b013e3181bc0158. Neurology. 2009. PMID: 19822871

7

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: ishii a. 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

8

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. Among authors: ishii a. 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

9

KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2.

Ishii A, Miyajima T, Kurahashi H, Wang JW, Yasumoto S, Kaneko S, Hirose S. Ishii A, et al. Epilepsy Res. 2012 Nov;102(1-2):122-5. doi: 10.1016/j.eplepsyres.2012.07.011. Epub 2012 Aug 10. Epilepsy Res. 2012. PMID: 22884718

10

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.

Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Yamashita Y, Takatsuka H, Taga T, Miyata R, Ito M, Tsuchiya H, Matsuoka T, Kitao T, Murakami K, Lee WT, Kaneko S, Hirose S. Ishii A, et al. Brain Dev. 2013 Jun;35(6):524-30. doi: 10.1016/j.braindev.2012.09.006. Epub 2012 Oct 13. Brain Dev. 2013. PMID: 23073245

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