Tohyama J - Search Results

1

Ketogenic diet for focal epilepsy with SPTAN1 encephalopathy.

Kishimoto K, Nabatame S, Kagitani-Shimono K, Kato M, Tohyama J, Nakashima M, Matsumoto N, Ozono K. Kishimoto K, et al. Among authors: tohyama j. Epileptic Disord. 2022 Aug 1;24(4):726-728. doi: 10.1684/epd.2022.1441. Epileptic Disord. 2022. PMID: 35925050 English. No abstract available.

2

Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsy.

Kamimura T, Tohyama J, Oishi M, Akasaka N, Kanazawa O, Sasagawa M, Kato M, Ohno K, Masuda H, Kameyama S, Uchiyama M. Kamimura T, et al. Among authors: tohyama j. Epilepsia. 2006 Jun;47(6):991-7. doi: 10.1111/j.1528-1167.2006.00511.x. Epilepsia. 2006. PMID: 16822245 Free article.

3

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K. Kato M, et al. Among authors: tohyama j. Am J Hum Genet. 2007 Aug;81(2):361-6. doi: 10.1086/518903. Epub 2007 Jun 11. Am J Hum Genet. 2007. PMID: 17668384 Free PMC article.

4

Megalencephaly and polymicrogyria with polydactyly syndrome.

Tohyama J, Akasaka N, Saito N, Yoshimura J, Nishiyama K, Kato M. Tohyama J, et al. Pediatr Neurol. 2007 Aug;37(2):148-51. doi: 10.1016/j.pediatrneurol.2007.04.008. Pediatr Neurol. 2007. PMID: 17675034

5

Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter.

Tohyama J, Akasaka N, Osaka H, Maegaki Y, Kato M, Saito N, Yamashita S, Ohno K. Tohyama J, et al. Brain Dev. 2008 May;30(5):349-55. doi: 10.1016/j.braindev.2007.10.006. Epub 2007 Dec 11. Brain Dev. 2008. PMID: 18065176

6

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N. Saitsu H, et al. Among authors: tohyama j. Nat Genet. 2008 Jun;40(6):782-8. doi: 10.1038/ng.150. Epub 2008 May 11. Nat Genet. 2008. PMID: 18469812

7

Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype.

Hosoki K, Kagami M, Tanaka T, Kubota M, Kurosawa K, Kato M, Uetake K, Tohyama J, Ogata T, Saitoh S. Hosoki K, et al. Among authors: tohyama j. J Pediatr. 2009 Dec;155(6):900-903.e1. doi: 10.1016/j.jpeds.2009.06.045. Epub 2009 Oct 1. J Pediatr. 2009. PMID: 19800077

8

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.

Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N. Saitsu H, et al. Among authors: tohyama j. Am J Hum Genet. 2010 Jun 11;86(6):881-91. doi: 10.1016/j.ajhg.2010.04.013. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493457 Free PMC article.

9

Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient.

Tohyama J, Kato M, Kawasaki S, Harada N, Kawara H, Matsui T, Akasaka N, Ohashi T, Kobayashi Y, Matsumoto N. Tohyama J, et al. Am J Med Genet A. 2011 Jan;155A(1):130-3. doi: 10.1002/ajmg.a.33652. Epub 2010 Dec 10. Am J Med Genet A. 2011. PMID: 21204220

10

Early-onset absence epilepsy at eight months of age.

Kobayashi Y, Akasaka N, Ohashi T, Saitoh S, Tomonoh Y, Hirose S, Tohyama J. Kobayashi Y, et al. Among authors: tohyama j. Epileptic Disord. 2011 Dec;13(4):417-21. doi: 10.1684/epd.2011.0477. Epileptic Disord. 2011. PMID: 22258047 Free article.

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