Kobayashi Y - Search Results

1

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N. Saitsu H, et al. Among authors: kobayashi y. J Hum Genet. 2014 Oct;59(10):581-3. doi: 10.1038/jhg.2014.71. Epub 2014 Aug 7. J Hum Genet. 2014. PMID: 25102098

2

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. Among authors: kobayashi y. 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

3

Acquired opercular epilepsy with oromotor dysfunction: magnetoencephalographic analysis and efficacy of corticosteroid therapy.

Tohyama J, Akasaka N, Ohashi T, Kobayashi Y. Tohyama J, et al. Among authors: kobayashi y. J Child Neurol. 2011 Jul;26(7):885-90. doi: 10.1177/0883073810393307. Epub 2011 Feb 15. J Child Neurol. 2011. PMID: 21325126

4

West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.

Tohyama J, Yamamoto T, Hosoki K, Nagasaki K, Akasaka N, Ohashi T, Kobayashi Y, Saitoh S. Tohyama J, et al. Among authors: kobayashi y. Am J Med Genet A. 2011 Oct;155A(10):2584-8. doi: 10.1002/ajmg.a.34224. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910242

5

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2.

Kobayashi Y, Ohashi T, Akasaka N, Tohyama J. Kobayashi Y, et al. Brain Dev. 2012 Aug;34(7):601-4. doi: 10.1016/j.braindev.2011.09.014. Epub 2011 Oct 15. Brain Dev. 2012. PMID: 22001500

6

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. Epileptic Disord. 2011 Dec;13(4):417-21. doi: 10.1684/epd.2011.0477. Epileptic Disord. 2011. PMID: 22258047 Free article.

7

Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.

Ohashi T, Akasaka N, Kobayashi Y, Magara S, Kawashima H, Matsumoto N, Saitsu H, Tohyama J. Ohashi T, et al. Among authors: kobayashi y. Epileptic Disord. 2014 Jun;16(2):208-12. doi: 10.1684/epd.2014.0649. Epileptic Disord. 2014. PMID: 24776920 Free article.

8

Gómez-López-Hernández syndrome in a Japanese patient: a case report.

Kobayashi Y, Kawashima H, Magara S, Akasaka N, Tohyama J. Kobayashi Y, et al. Brain Dev. 2015 Mar;37(3):356-8. doi: 10.1016/j.braindev.2014.05.002. Epub 2014 May 21. Brain Dev. 2015. PMID: 24856766

9

Rub epilepsy in an infant with Turner syndrome.

Magara S, Kawashima H, Kobayashi Y, Akasaka N, Yamazaki S, Tohyama J. Magara S, et al. Among authors: kobayashi y. Brain Dev. 2015 Aug;37(7):725-8. doi: 10.1016/j.braindev.2014.11.004. Epub 2014 Dec 3. Brain Dev. 2015. PMID: 25480382

10

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.

Saitsu H, Akita T, Tohyama J, Goldberg-Stern H, Kobayashi Y, Cohen R, Kato M, Ohba C, Miyatake S, Tsurusaki Y, Nakashima M, Miyake N, Fukuda A, Matsumoto N. Saitsu H, et al. Among authors: kobayashi y. Sci Rep. 2015 Oct 19;5:15199. doi: 10.1038/srep15199. Sci Rep. 2015. PMID: 26477325 Free PMC article.

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