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• Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders 査読あり

  Yuan J.H., Cheng X., Matsuura E., Higuchi Y., Ando M., Hashiguchi A., Yoshimura A., Nakachi R., Mine J., Taketani T., Maeda K., Kawakami S., Kira R., Tanaka S., Kanai K., Dib-Hajj F., Dib-Hajj S.D., Waxman S.G., Takashima H.

  Journal of the Peripheral Nervous System   28 ( 4 )   597 - 607   2023年12月

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  記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Journal of the Peripheral Nervous System  

  Background and Aims: Voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, has been linked to diverse painful peripheral neuropathies, represented by the inherited erythromelalgia (EM) and paroxysmal extreme pain disorder (PEPD). The aim of this study was to determine the genetic etiology of patients experiencing neuropathic pain, and shed light on the underlying pathogenesis. Methods: We enrolled eight patients presenting with early-onset painful peripheral neuropathies, consisting of six cases exhibiting EM/EM-like disorders and two cases clinically diagnosed with PEPD. We conducted a gene-panel sequencing targeting 18 genes associated with hereditary sensory and/or autonomic neuropathy. We introduced novel SCN9A mutation (F1624S) into a GFP-2A-Nav1.7rNS plasmid, and the constructs were then transiently transfected into HEK293 cells. We characterized both wild-type and F1624S Nav1.7 channels using an automated high-throughput patch-clamp system. Results: From two patients displaying EM-like/EM phenotypes, we identified two SCN9A mutations, I136V and P1308L. Among two patients diagnosed with PEPD, we found two additional mutations in SCN9A, F1624S (novel) and A1632E. Patch-clamp analysis of Nav1.7-F1624S revealed depolarizing shifts in both steady-state fast inactivation (17.4 mV, p <.001) and slow inactivation (5.5 mV, p <.001), but no effect on channel activation was observed. Interpretation: Clinical features observed in our patients broaden the phenotypic spectrum of SCN9A-related pain disorders, and the electrophysiological analysis enriches the understanding of genotype–phenotype association caused by Nav1.7 gain-of-function mutations.

  DOI： 10.1111/jns.12590

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• A case of infantile epileptic spasms syndrome and autism spectrum disorder with an RFX3 mutation 査読あり

  Torio M., Maeda K., Akamine S., Kawakami S., Matsubara Y., Miya F., Kato M., Kira R.

  Seizure   112   11 - 14   2023年11月

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  記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Seizure  

  DOI： 10.1016/j.seizure.2023.09.004

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• Case Report: Acute Fulminant Cerebral Edema With Perivascular Abnormalities Related to Kawasaki Disease.

  Maeda K, Chong PF, Akamine S, Yamashita F, Morooka Y, Mori H, Lee S, Mizuno Y, Kira R

  Frontiers in pediatrics   9   732110   2021年

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  記述言語：英語   掲載種別：研究論文（学術雑誌）  

  DOI： 10.3389/fped.2021.732110

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• Isolated cranial neuritis of the oculomotor nerve: Expanding the MOG phenotype?

  Kawakami S, Akamine S, Chong PF, Yamashita F, Maeda K, Takahashi T, Kira R

  Multiple sclerosis and related disorders   41   102040   2020年6月

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  記述言語：英語   掲載種別：研究論文（学術雑誌）  

  DOI： 10.1016/j.msard.2020.102040

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• Influenza-associated encephalopathy with focal late reduced diffusion circumscribing a pre-existing cortical lesion.

  Maeda K, Chong PF, Yamashita F, Akamine S, Kawakami S, Lee S, Kira R

  Journal of neuroradiology = Journal de neuroradiologie   47 ( 3 )   241 - 243   2020年5月

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  記述言語：英語   掲載種別：研究論文（学術雑誌）  

  DOI： 10.1016/j.neurad.2020.01.086

  PubMed