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Brain & Development|April 28, 2018
Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutationRyo Takeguchi, Kazuhiro Haginoya, Yuri Uchiyama, et al.
Case Reports in Medicine|June 25, 2026
Co-Occurrence of SCN9A and PRRT2 Variants in a Patient With Paroxysmal Extreme Pain Disorder, Contradictory Analgesia, and Intractable Paroxysmal Non-Kinesigenic DyskinesiaMiki Ikeda, Aritomo Kawashima, Kaori Kodama, et al.
The Tohoku Journal of Experimental Medicine|March 24, 2022
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2Yuta Narishige, Hisao Yaoita, Moriei Shibuya, et al.
The Tohoku Journal of Experimental Medicine|November 15, 2023
The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with ThymectomyMoriei Shibuya, Minobu Shichiji, Miki Ikeda, et al.
The Tohoku Journal of Experimental Medicine|January 24, 2024
Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case ReportToshiki Inotani, Akira Horaguchi, Yuko Morishita, et al.
Brain & Development|July 13, 2023
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1AYukimune Okubo, Moriei Shibuya, Haruhiko Nakamura, et al.
Brain & Development|November 19, 2019
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasmsWakaba Endo, Satoru Ikemoto, Noriko Togashi, et al.
Annals of Clinical and Translational Neurology|May 16, 2018
Genomic analysis identifies masqueraders of full-term cerebral palsyYusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, et al.
American Journal of Medical Genetics. Part A|May 17, 2024
Long-term clinical observation of patients with heterozygous KIF1A variantsAritomo Kawashima, Kaori Kodama, Yukimune Okubo, et al.
Epilepsia Open|June 7, 2021
Efficacy of long-term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case seriesShimpei Baba, Tohru Okanishi, Yoichiro Homma, et al.
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