Xuqin L. Chen

Suzhou Industrial Park
Suzhou, China

Last Updated: 09/26/2026

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Found 32 publications

Study on Leigh syndrome caused by SURF1 gene mutations and its mechanisms.

Study on Leigh syndrome caused by SURF1 gene mutations and its mechanisms.

Journal: Frontiers in neurology

Published: January 21, 2026

Developmental and epileptic encephalopathies with germline PIGA variants in five Chinese children: a case report and literature review.

Developmental and epileptic encephalopathies with germline PIGA variants in five Chinese children: a case report and literature review.

Journal: Frontiers in genetics

Published: December 18, 2025

Distinct phenotypes differentiate paroxysmal kinesigenic dyskinesia from epilepsy in children with PRRT2 variants.

Distinct phenotypes differentiate paroxysmal kinesigenic dyskinesia from epilepsy in children with PRRT2 variants.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: December 15, 2025

An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.

An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.

Journal: Human molecular genetics

Published: November 17, 2025

Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.

Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.

Journal: Scientific reports

Published: September 01, 2025

A case of pamidronate disodium in the treatment of calvarial doughnut lesions with bone fragility in children

A case of pamidronate disodium in the treatment of calvarial doughnut lesions with bone fragility in children

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: May 20, 2025

Discovery of Novel Pyrimidine-Based Derivatives as Nav1.2 Inhibitors with Efficacy in Mouse Models of Epilepsy.

Discovery of Novel Pyrimidine-Based Derivatives as Nav1.2 Inhibitors with Efficacy in Mouse Models of Epilepsy.

Journal: Journal of medicinal chemistry

Published: July 22, 2024

Phenotypic and genotypic analysis of a patient with Miyoshi myopathy caused by truncated protein.

Phenotypic and genotypic analysis of a patient with Miyoshi myopathy caused by truncated protein.

Journal: Gene

Published: August 26, 2023

SCAF4 variants are associated with epilepsy with neurodevelopmental disorders.

SCAF4 variants are associated with epilepsy with neurodevelopmental disorders.

Journal: Seizure

Published: June 30, 2023

Therapeutic Drug Monitoring of Perampanel in Children With Refractory Epilepsy: Focus on Influencing Factors on the Free-Perampanel Concentration.

Therapeutic Drug Monitoring of Perampanel in Children With Refractory Epilepsy: Focus on Influencing Factors on the Free-Perampanel Concentration.

Journal: Therapeutic drug monitoring

Published: November 11, 2022

Use of perampanel in children with refractory epilepsy of genetic aetiology

Use of perampanel in children with refractory epilepsy of genetic aetiology

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: June 30, 2022

Treating GNAO1 mutation-related severe movement disorders with oxcarbazepine: a case report.

Treating GNAO1 mutation-related severe movement disorders with oxcarbazepine: a case report.

Journal: Translational pediatrics

Published: June 10, 2022

Showing 1-12 of 32

Last Updated: 09/26/2026