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The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.
Kurokawa M, Torio M, Ohkubo K, Tocan V, Ohyama N, Toda N, Ishii K, Nishiyama K, Mushimoto Y, Sakamoto R, Nakaza M, Horie R, Kubota T, Takahashi MP, Sakai Y, Nomura M, Ohga S. Kurokawa M, et al. Among authors: torio m. Mol Genet Genomic Med. 2020 Apr;8(4):e1175. doi: 10.1002/mgg3.1175. Epub 2020 Feb 27. Mol Genet Genomic Med. 2020. PMID: 32104981 Free PMC article.
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N. Saitsu H, et al. Among authors: torio m. Eur J Hum Genet. 2016 Jan;24(1):129-34. doi: 10.1038/ejhg.2015.92. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966631 Free PMC article.
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T. Kanemasa H, et al. Among authors: torio m. BMC Neurol. 2016 Sep 15;16:174. doi: 10.1186/s12883-016-0680-6. BMC Neurol. 2016. PMID: 27634470 Free PMC article.
Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion.
Ichimiya Y, Kaku N, Sakai Y, Yamashita F, Matsuoka W, Muraoka M, Akamine S, Mizuguchi S, Torio M, Motomura Y, Hirata Y, Ishizaki Y, Sanefuji M, Torisu H, Takada H, Maehara Y, Ohga S. Ichimiya Y, et al. Among authors: torio m. Brain Dev. 2017 Aug;39(7):621-624. doi: 10.1016/j.braindev.2017.03.023. Epub 2017 Apr 13. Brain Dev. 2017. PMID: 28413125
43 results