Qian Chen

Beijing, China

Last Updated: 09/26/2026

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Found 43 publications

Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy.

Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy.

Journal: Neurology. Genetics

Published: June 10, 2025

Uncommon Bilateral Frontoparietal Cortex Hypermetabolism Revealed by 18 F-FDG PET/CT in a Patient With Anti-LGI1 Encephalitis.

Uncommon Bilateral Frontoparietal Cortex Hypermetabolism Revealed by 18 F-FDG PET/CT in a Patient With Anti-LGI1 Encephalitis.

Journal: Clinical nuclear medicine

Published: December 30, 2024

Overexpanded CAG repeats in ATN1 cause an Early-Onset Case of Dentatorubral-Pallidoluysian atrophy with novel phenotypes and a literature Review of Chinese patients.

Overexpanded CAG repeats in ATN1 cause an Early-Onset Case of Dentatorubral-Pallidoluysian atrophy with novel phenotypes and a literature Review of Chinese patients.

Journal: Gene

Published: July 11, 2024

Prevalence, clinical characteristics and outcomes of seizures in neurofibromatosis type 1: A systematic review and single arm meta-analysis.

Prevalence, clinical characteristics and outcomes of seizures in neurofibromatosis type 1: A systematic review and single arm meta-analysis.

Journal: Epilepsy research

Published: June 07, 2024

Generation of a human iPSC line CIPi004-A from a patient with neurofibromatosis type 1 and epilepsy harboring a heterozygous mutation in NF1 gene.

Generation of a human iPSC line CIPi004-A from a patient with neurofibromatosis type 1 and epilepsy harboring a heterozygous mutation in NF1 gene.

Journal: Stem cell research

Published: May 10, 2024

A novel compound heterozygous mutation of UFC1 in a patient with neurodevelopmental disorder.

A novel compound heterozygous mutation of UFC1 in a patient with neurodevelopmental disorder.

Journal: Genes & genomics

Published: March 27, 2024

Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.

Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.

Journal: Pediatric research

Published: February 20, 2024

Novel homozygous ADK out-of-frame deletion causes adenosine kinase deficiency with rare phenotypes of sepsis, metabolites disruption and neutrophil dysfunction.

Novel homozygous ADK out-of-frame deletion causes adenosine kinase deficiency with rare phenotypes of sepsis, metabolites disruption and neutrophil dysfunction.

Journal: Gene

Published: January 30, 2024

Whole exome sequencing identifies KCNH7 variants associated with epilepsy in children.

Whole exome sequencing identifies KCNH7 variants associated with epilepsy in children.

Journal: Genes & diseases

Published: January 22, 2024

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.

Journal: Molecular genetics & genomic medicine

Published: December 17, 2023

Improved effect of EEG-biofeedback intervention on cognitive function in childhood idiopathic epilepsy with ADHD: A retrospective study.

Improved effect of EEG-biofeedback intervention on cognitive function in childhood idiopathic epilepsy with ADHD: A retrospective study.

Journal: Heliyon

Published: October 14, 2023

Generation of a human iPSC line CIPi003-A from a patient with focal epilepsy harboring a heterozygous mutation in DEPDC5 gene.

Generation of a human iPSC line CIPi003-A from a patient with focal epilepsy harboring a heterozygous mutation in DEPDC5 gene.

Journal: Stem cell research

Published: June 18, 2023

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Last Updated: 09/26/2026