Takahashi S - Search Results

1

CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism.

Takahashi S, Takeguchi R, Tanaka R, Fukuoka M, Koike T, Ohtani H, Inoue K, Fukuda M, Kurahashi H, Nakamura K, Tominaga K, Matsubayashi T, Itoh M, Tanaka T. Takahashi S, et al. J Neurol Sci. 2022 Dec 15;443:120498. doi: 10.1016/j.jns.2022.120498. Epub 2022 Nov 16. J Neurol Sci. 2022. PMID: 36417806

2

Human herpesvirus-6 infection-associated acute encephalopathy without skin rash.

Yamamoto S, Takahashi S, Tanaka R, Okayama A, Araki A, Katano H, Tanaka-Taya K, Azuma H. Yamamoto S, et al. Among authors: takahashi s. Brain Dev. 2015 Sep;37(8):829-32. doi: 10.1016/j.braindev.2014.12.005. Epub 2015 Jan 9. Brain Dev. 2015. PMID: 25582898

3

Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures.

Takahashi S, Yamamoto S, Tanaka R, Okayama A, Araki A, Azuma H. Takahashi S, et al. Epilepsy Behav Case Rep. 2015 Jun 25;4:35-7. doi: 10.1016/j.ebcr.2015.06.006. eCollection 2015. Epilepsy Behav Case Rep. 2015. PMID: 26155465 Free PMC article.

4

Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence.

Takahashi S, Tanaka R, Okano S, Okayama A, Suzuki N, Azuma H. Takahashi S, et al. Mol Cytogenet. 2015 Oct 31;8:84. doi: 10.1186/s13039-015-0186-8. eCollection 2015. Mol Cytogenet. 2015. PMID: 26523152 Free PMC article.

5

Evolution into moyamoya disease in an infant with internal carotid artery aneurysms.

Tanaka R, Takahashi S, Okano S, Okayama A, Suzuki N, Kure S, Azuma H. Tanaka R, et al. Among authors: takahashi s. eNeurologicalSci. 2017 Jan 31;6:80-82. doi: 10.1016/j.ensci.2017.01.002. eCollection 2017 Mar. eNeurologicalSci. 2017. PMID: 29260015 Free PMC article.

6

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.

Okumura A, Shimojima K, Kurahashi H, Numoto S, Shimada S, Ishii A, Ohmori I, Takahashi S, Awaya T, Kubota T, Sakakibara T, Ishihara N, Hattori A, Torisu H, Tohyama J, Inoue T, Haibara A, Nishida T, Yuhara Y, Miya K, Tanaka R, Hirose S, Yamamoto T. Okumura A, et al. Among authors: takahashi s. Seizure. 2019 Oct;71:1-5. doi: 10.1016/j.seizure.2019.05.017. Epub 2019 May 20. Seizure. 2019. PMID: 31154286 Free article.

7

MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome.

Takeguchi R, Takahashi S, Kuroda M, Tanaka R, Suzuki N, Tomonoh Y, Ihara Y, Sugiyama N, Itoh M. Takeguchi R, et al. Among authors: takahashi s. Mol Genet Genomic Med. 2020 Feb;8(2):e1088. doi: 10.1002/mgg3.1088. Epub 2019 Dec 9. Mol Genet Genomic Med. 2020. PMID: 31816669 Free PMC article.

8

Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.

Takahashi S, Takeguchi R, Kuroda M, Tanaka R. Takahashi S, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1122. doi: 10.1002/mgg3.1122. Epub 2020 Jan 13. Mol Genet Genomic Med. 2020. PMID: 31943886 Free PMC article.

9

Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome.

Saikusa T, Kawaguchi M, Tanioka Tetsu T T, Nabatame Shin N S, Takahashi S, Yuge K, Nagamitsu SI, Takahashi T, Yamashita Y, Kobayashi Y, Hirayama C, Kakuma T, Matsuishi T, Itoh M. Saikusa T, et al. Among authors: takahashi t, takahashi s. Brain Dev. 2020 Nov;42(10):705-712. doi: 10.1016/j.braindev.2020.06.012. Epub 2020 Jul 17. Brain Dev. 2020. PMID: 32684376

10

The role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome.

Takahashi S, Tanaka R, Takeguchi R, Kuroda M, Akaba Y, Ito Y. Takahashi S, et al. J Neurol Sci. 2020 Sep 15;416:117041. doi: 10.1016/j.jns.2020.117041. Epub 2020 Jul 16. J Neurol Sci. 2020. PMID: 32712428

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