Shumpei Uchino
Tokyo, Japan
Last Updated: 09/26/2026
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Found 8 publications
Efficacy of fenfluramine in a pediatric epilepsy patient with a pathogenic SV2A variant: A case report.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: March 06, 2026
Valine metabolites analysis in ECHS1 deficiency.
Journal: Molecular genetics and metabolism reports
Published: July 26, 2021
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Journal: Brain : a journal of neurology
Published: April 25, 2020
Clinical and genetic characteristics of patients with Doose syndrome.
Journal: Epilepsia open
Published: January 23, 2020
A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome.
A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome.
Journal: Human genome variation
Published: January 21, 2019
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
Journal: Annals of neurology
Published: December 20, 2018
Stereotypic Hand Movements in β-Propeller Protein-Associated Neurodegeneration: First Video Report.
Journal: Movement disorders clinical practice
Published: September 03, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026