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Genetic abnormalities underlying familial epilepsy syndromes.
Hirose S, Okada M, Yamakawa K, Sugawara T, Fukuma G, Ito M, Kaneko S, Mitsudome A. Hirose S, et al. Brain Dev. 2002 Jun;24(4):211-22. doi: 10.1016/s0387-7604(02)00056-6. Brain Dev. 2002. PMID: 12015163 Review.
Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency.
Shinka T, Inoue Y, Ohse M, Ito A, Ohfu M, Hirose S, Kuhara T. Shinka T, et al. Among authors: hirose s. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Aug 25;776(1):57-63. doi: 10.1016/s1570-0232(02)00126-5. J Chromatogr B Analyt Technol Biomed Life Sci. 2002. PMID: 12127325
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).
Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, Ohfu M, Inoue T, Watanachai A, Kira R, Matsuo M, Muranaka H, Sofue F, Zhang B, Kaneko S, Mitsudome A, Hirose S. Fukuma G, et al. Among authors: hirose s. Epilepsia. 2004 Feb;45(2):140-8. doi: 10.1111/j.0013-9580.2004.15103.x. Epilepsia. 2004. PMID: 14738421 Free article.
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.
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
2,090 results