Oguni H - Search Results

1

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.

Den K, Kudo Y, Kato M, Watanabe K, Doi H, Tanaka F, Oguni H, Miyatake S, Mizuguchi T, Takata A, Miyake N, Mitsuhashi S, Matsumoto N. Den K, et al. Among authors: oguni h. BMC Neurol. 2019 Oct 27;19(1):253. doi: 10.1186/s12883-019-1489-x. BMC Neurol. 2019. PMID: 31656175 Free PMC article.

2

A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy.

Oguni H, Nishikawa A, Sato Y, Otani Y, Ito S, Nagata S, Kato M, Hamanaka K, Miyatake S, Matsumoto N. Oguni H, et al. Epilepsy Res. 2019 Sep;155:106149. doi: 10.1016/j.eplepsyres.2019.06.001. Epub 2019 Jun 3. Epilepsy Res. 2019. PMID: 31185419

3

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N. Iwama K, et al. Among authors: oguni h. Clin Genet. 2017 Aug;92(2):180-187. doi: 10.1111/cge.12991. Epub 2017 Mar 30. Clin Genet. 2017. PMID: 28177126

4

A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS).

Nishikawa A, Otani Y, Ito S, Nagata S, Shiota M, Takanashi JI, Nakashima M, Saitsu H, Matsumoto N, Oguni H. Nishikawa A, et al. Among authors: oguni h. Epileptic Disord. 2020 Aug 1;22(4):476-481. doi: 10.1684/epd.2020.1183. Epileptic Disord. 2020. PMID: 32759093

5

Mowat-Wilson syndrome affecting 3 siblings.

Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N. Ohtsuka M, et al. Among authors: oguni h. J Child Neurol. 2008 Mar;23(3):274-8. doi: 10.1177/0883073807309231. Epub 2008 Jan 29. J Child Neurol. 2008. PMID: 18230842

6

[Chronic hypothermia and a disordered thermoregulation in a child with severe brain damage and malnutrition].

Oguni M, Awaya Y, Sasaki H, Watanabe K, Oguni H, Yajima K, Fukuyama Y. Oguni M, et al. Among authors: oguni h. No To Hattatsu. 1993 Jul;25(4):352-7. No To Hattatsu. 1993. PMID: 8338697 Japanese.

7

[Clinical factors related to treatment resistance in juvenile myoclonic epilepsy].

Hirano Y, Oguni H, Osawa M. Hirano Y, et al. Among authors: oguni h. Rinsho Shinkeigaku. 2008 Oct;48(10):727-32. doi: 10.5692/clinicalneurol.48.727. Rinsho Shinkeigaku. 2008. PMID: 19086428 Japanese.

8

A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures.

Shimada S, Hirano Y, Ito S, Oguni H, Nagata S, Shimojima K, Yamamoto T. Shimada S, et al. Among authors: oguni h. Hum Genome Var. 2014 Dec 4;1:14027. doi: 10.1038/hgv.2014.27. eCollection 2014. Hum Genome Var. 2014. PMID: 27081515 Free PMC article.

9

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.

Medina MT, Suzuki T, Alonso ME, Durón RM, Martínez-Juárez IE, Bailey JN, Bai D, Inoue Y, Yoshimura I, Kaneko S, Montoya MC, Ochoa A, Prado AJ, Tanaka M, Machado-Salas J, Fujimoto S, Ito M, Hamano S, Sugita K, Ueda Y, Osawa M, Oguni H, Rubio-Donnadieu F, Yamakawa K, Delgado-Escueta AV. Medina MT, et al. Among authors: oguni h. Neurology. 2008 May 27;70(22 Pt 2):2137-44. doi: 10.1212/01.wnl.0000313149.73035.99. Neurology. 2008. PMID: 18505993

10

Perampanel improved intractable myoclonus in two patients with myoclonus epilepsy.

Iijima M, Oguni H, Kobayashi M, Kitagawa K. Iijima M, et al. Among authors: oguni h. eNeurologicalSci. 2019 Nov 18;17:100215. doi: 10.1016/j.ensci.2019.100215. eCollection 2019 Dec. eNeurologicalSci. 2019. PMID: 31799456 Free PMC article. No abstract available.

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