Yoshitomi S - Search Results

1

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Among authors: yoshitomi s. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.

2

Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N. Tsuchida N, et al. Among authors: yoshitomi s. Clin Genet. 2018 Feb;93(2):266-274. doi: 10.1111/cge.13061. Epub 2017 Sep 18. Clin Genet. 2018. PMID: 28556953

3

A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy.

Kimizu T, Takahashi Y, Oboshi T, Horino A, Koike T, Yoshitomi S, Mori T, Yamaguchi T, Ikeda H, Okamoto N, Nakashima M, Saitsu H, Kato M, Matsumoto N, Imai K. Kimizu T, et al. Among authors: yoshitomi s. Brain Dev. 2017 Mar;39(3):256-260. doi: 10.1016/j.braindev.2016.09.009. Epub 2016 Oct 12. Brain Dev. 2017. PMID: 27743886

4

Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications.

Yoshitomi S, Takahashi Y, Ishizuka M, Yamaguchi T, Watanabe A, Nasu H, Ueda Y, Ohtani H, Ikeda H, Imai K, Shigematsu H, Inoue Y, Tanahashi Y, Aiba K, Ohta H, Shimada S, Yamamoto T. Yoshitomi S, et al. Brain Dev. 2015 Oct;37(9):874-9. doi: 10.1016/j.braindev.2015.03.001. Epub 2015 Apr 3. Brain Dev. 2015. PMID: 25843248

5

WDR45 mutations in three male patients with West syndrome.

Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N. Nakashima M, et al. Among authors: yoshitomi s. J Hum Genet. 2016 Jul;61(7):653-61. doi: 10.1038/jhg.2016.27. Epub 2016 Mar 31. J Hum Genet. 2016. PMID: 27030146 Review.

6

Verbal function recovery in a postoperative case with epileptic encephalopathy.

Yoshitomi S, Usui N, Kondo A, Imai K, Takahashi Y. Yoshitomi S, et al. Pediatr Int. 2020 Mar;62(3):412-414. doi: 10.1111/ped.14087. Pediatr Int. 2020. PMID: 32246570 No abstract available.

7

Antibodies against peptides of NMDA-type GluR in cerebrospinal fluid of patients with epileptic spasms.

Mori T, Takahashi Y, Araya N, Oboshi T, Watanabe H, Tsukamoto K, Yamaguchi T, Yoshitomi S, Nasu H, Ikeda H, Otani H, Imai K, Shigematsu H, Inoue Y. Mori T, et al. Among authors: yoshitomi s. Eur J Paediatr Neurol. 2016 Nov;20(6):865-873. doi: 10.1016/j.ejpn.2016.07.006. Epub 2016 Jul 13. Eur J Paediatr Neurol. 2016. PMID: 27515477

8

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS).

Yoshitomi S, Takahashi Y, Imai K, Koshimizu E, Miyatake S, Nakashima M, Saitsu H, Matsumoto N, Kato M, Fujita T, Ishii A, Hirose S, Inoue Y. Yoshitomi S, et al. Seizure. 2019 Feb;65:118-123. doi: 10.1016/j.seizure.2019.01.009. Epub 2019 Jan 18. Seizure. 2019. PMID: 30684875 Free article.

9

Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations.

Yoshitomi S, Takahashi Y, Yamaguchi T, Oboshi T, Horino A, Ikeda H, Imai K, Okanishi T, Nakashima M, Saitsu H, Matsumoto N, Yoshimoto J, Fujita T, Ishii A, Hirose S, Inoue Y. Yoshitomi S, et al. Epileptic Disord. 2019 Feb 1;21(1):48-54. doi: 10.1684/epd.2019.1026. Epileptic Disord. 2019. PMID: 30782581

10

Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome.

Yoshitomi S, Takahashi Y, Yamaguchi T, Imai K, Ishii A, Hirose S, Inoue Y. Yoshitomi S, et al. Epilepsy Res. 2019 Aug;154:34-38. doi: 10.1016/j.eplepsyres.2019.02.014. Epub 2019 Apr 21. Epilepsy Res. 2019. PMID: 31035242

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