Kaoru Eto

Tokyo, Japan

Last Updated: 09/26/2026

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Found 11 publications

Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.

Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.

Journal: International journal of molecular sciences

Published: April 30, 2024

Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus.

Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus.

Journal: Molecular genetics and metabolism reports

Published: September 06, 2023

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.

Journal: Human genome variation

Published: October 26, 2022

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.

Journal: Human genome variation

Published: March 11, 2021

Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency.

Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency.

Journal: Brain & development

Published: October 17, 2020

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.

Journal: Brain & development

Published: February 20, 2018

Two cases of childhood narcolepsy mimicking epileptic seizures in video-EEG/EMG.

Two cases of childhood narcolepsy mimicking epileptic seizures in video-EEG/EMG.

Journal: Brain & development

Published: August 21, 2017

The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.

The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.

Journal: Molecular genetics and metabolism

Published: January 06, 2017

We fully enjoy our career and life

We fully enjoy our career and life

Journal: No to hattatsu = Brain and development

Published: June 29, 2016

Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.

Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.

Journal: American journal of medical genetics. Part A

Published: February 24, 2013

A child with paroxysmal exertion-induced dyskinesia

A child with paroxysmal exertion-induced dyskinesia

Journal: No to hattatsu = Brain and development

Published: June 21, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026