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Case Reports in Neurology|July 9, 2026
Relative Efficacy of Self-Managed Caffeine Supplementation in Maintaining Daily Activity in a Patient with ADCY5-Related Dyskinesia: A Case ReportKaori Kodama, Haruhiko Nakamura, Aritomo Kawashima, et al.Brain & Development|July 14, 2020
Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsyNoriko Togashi, Atsushi Fujita, Moriei Shibuya, et al.The Tohoku Journal of Experimental Medicine|July 6, 2022
Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the LiteratureMoriei Shibuya, Noriko Togashi, Takehiko Inui, et al.Brain & Development|December 20, 2017
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutationYukimune Okubo, Wakaba Endo, Takehiko Inui, et al.Brain & Development|August 30, 2021
A patient with early-onset SMAX3 and a novel variant of ATP7AMoriei Shibuya, Hisao Yaoita, Kaori Kodama, et al.European Journal of Medical Genetics|September 20, 2019
Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2Takehiko Inui, Kazuhiro Iwama, Takuya Miyabayashi, et al.Journal of Human Genetics|February 3, 2017
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndromeTakehiko Inui, Mai Anzai, Yusuke Takezawa, et al.Brain & Development|January 24, 2013
A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathyKeisuke Wakusawa, Satoru Kobayashi, Yu Abe, et al.Pediatric Neurology|April 8, 2026
Electrographic Seizures Following Status Epilepticus With Fever in Critically Ill ChildrenTakehiko Inui, Saki Uneoka, Miki Ikeda, et al.Brain & Development|May 29, 2017
A patient with Muenke syndrome manifesting migrating neonatal seizuresYukimune Okubo, Taro Kitamura, Mai Anzai, et al.Pageof 5