Jun Tohyama

Chuo, Japan

Last Updated: 09/26/2026

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Found 75 publications

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Journal: Molecular genetics & genomic medicine

Published: March 23, 2026

Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series.

Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series.

Journal: Brain & development

Published: May 14, 2025

Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing.

Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing.

Journal: Journal of human genetics

Published: April 20, 2025

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Journal: NPJ genomic medicine

Published: March 11, 2025

Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.

Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.

Journal: Human genome variation

Published: September 27, 2024

Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures.

Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures.

Journal: Journal of human genetics

Published: February 15, 2024

A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant.

A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant.

Journal: Human genome variation

Published: October 12, 2023

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.

Journal: Human genome variation

Published: April 24, 2023

Two-year efficacy of lacosamide as adjunctive therapy for generalized tonic-clonic seizures in patients with juvenile myoclonic epilepsy.

Two-year efficacy of lacosamide as adjunctive therapy for generalized tonic-clonic seizures in patients with juvenile myoclonic epilepsy.

Journal: Brain & development

Published: April 03, 2023

Efficacy of sirolimus for epileptic seizures in childhood associated with focal cortical dysplasia type II.

Efficacy of sirolimus for epileptic seizures in childhood associated with focal cortical dysplasia type II.

Journal: Brain & development

Published: January 04, 2023

An integrated genetic analysis of epileptogenic brain malformed lesions.

An integrated genetic analysis of epileptogenic brain malformed lesions.

Journal: Acta neuropathologica communications

Published: December 23, 2022

Molecular diagnosis of 405 individuals with autism spectrum disorder.

Molecular diagnosis of 405 individuals with autism spectrum disorder.

Journal: European journal of human genetics : EJHG

Published: December 11, 2022

Showing 1-12 of 75

Last Updated: 09/26/2026