Kobayashi Y - Search Results

1

Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.

Hojo M, Soma N, Yamada K, Kobayashi Y, Miura M, Fujii H, Nyuzuki H, Nishio Y, Oso T, Ogi T, Ikeuchi T, Tohyama J. Hojo M, et al. Among authors: kobayashi y. Hum Genome Var. 2024 Dec 4;11(1):45. doi: 10.1038/s41439-024-00303-x. Hum Genome Var. 2024. PMID: 39627236 Free PMC article.

2

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.

Kobayashi Y, Tohyama J, Akasaka N, Yamada K, Hojo M, Seki E, Miura M, Soma N, Ono T, Kato M, Nakashima M, Saitsu H, Matsumoto N. Kobayashi Y, et al. Hum Genome Var. 2023 Jun 23;10(1):20. doi: 10.1038/s41439-023-00247-8. Hum Genome Var. 2023. PMID: 37353494 Free PMC article.

3

Clinical and electroencephalographic findings prior to the onset of juvenile myoclonic epilepsy: A case series.

Hiraiwa A, Kobayashi Y, Hojo M, Tohyama J. Hiraiwa A, et al. Among authors: kobayashi y. Epileptic Disord. 2023 Feb;25(1):80-86. doi: 10.1002/epd2.20052. Epub 2023 Apr 17. Epileptic Disord. 2023. PMID: 36946369

4

Two-year efficacy of lacosamide as adjunctive therapy for generalized tonic-clonic seizures in patients with juvenile myoclonic epilepsy.

Kobayashi Y, Honda R, Yamada K, Hojo M, Miura M, Seki E, Ono T, Tohyama J. Kobayashi Y, et al. Brain Dev. 2023 Sep;45(8):451-455. doi: 10.1016/j.braindev.2023.05.007. Epub 2023 Jun 10. Brain Dev. 2023. PMID: 37308336 Free article.

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

Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis.

Hiraiwa A, Matsui K, Nakayama Y, Komatsubara T, Magara S, Kobayashi Y, Hojo M, Kato M, Yamamoto T, Tohyama J. Hiraiwa A, et al. Among authors: kobayashi y. Brain Dev. 2021 Mar;43(3):448-453. doi: 10.1016/j.braindev.2020.11.003. Epub 2020 Nov 21. Brain Dev. 2021. PMID: 33229101

7

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

8

The association of epileptic focus estimated by magnetoencephalography with cognitive function in non-lesional epilepsy with continuous spikes and waves during slow wave sleep (ECSWS) children.

Magara S, Komatsubara T, Hojo M, Kobayashi Y, Yoshino M, Saitoh A, Tohyama J. Magara S, et al. Among authors: kobayashi y. Brain Dev. 2019 Feb;41(2):163-172. doi: 10.1016/j.braindev.2018.09.005. Epub 2018 Oct 17. Brain Dev. 2019. PMID: 30342800

9

Recurrence rates and risk factors for seizure recurrence following antiseizure medication withdrawal in adolescent patients with genetic generalized epilepsy.

Komatsubara T, Kobayashi Y, Hiraiwa A, Magara S, Hojo M, Ono T, Okazaki K, Fukuda M, Tohyama J. Komatsubara T, et al. Among authors: kobayashi y. Epilepsia Open. 2022 Jun;7(2):332-343. doi: 10.1002/epi4.12603. Epub 2022 Apr 28. Epilepsia Open. 2022. PMID: 35445562 Free PMC article.

10

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.

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