Peng-yu Wang

Key Laboratory Of Neurogenetics And Channelopathies Of Guangdong Province And The Ministry Of Education Of China
Guangzhou, China

Last Updated: 09/26/2026

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Found 19 publications

Variants in KLHL15, encoding a regulator of protein ubiquitination, linked to focal epilepsy with neurodevelopmental disorders.

Variants in KLHL15, encoding a regulator of protein ubiquitination, linked to focal epilepsy with neurodevelopmental disorders.

Journal: Seizure
Published: March 17, 2026

RLIM variant associated with X-linked epilepsy with neurodevelopmental disorders and the molecular sub-regional effects.

RLIM variant associated with X-linked epilepsy with neurodevelopmental disorders and the molecular sub-regional effects.

Journal: Seizure
Published: February 28, 2026

Toward precision medicine in SCN3A variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effects.

Toward precision medicine in SCN3A variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effects.

Journal: Frontiers in neurology
Published: December 20, 2025

Biological Context-Informed and Population-Stratified Strategies Improve Genetic Diagnosis of CCDC22-Related Disorder.

Biological Context-Informed and Population-Stratified Strategies Improve Genetic Diagnosis of CCDC22-Related Disorder.

Journal: Genetics research
Published: December 10, 2025

Epilepsy-associated CHD2 missense variants and optimization strategies for genetic diagnosis: a comparative analysis of algorithms.

Epilepsy-associated CHD2 missense variants and optimization strategies for genetic diagnosis: a comparative analysis of algorithms.

Journal: Frontiers in neurology
Published: October 21, 2025

De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum.

De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum.

Journal: Epilepsia
Published: June 26, 2025

De novo truncating variant in the FBRSL1 gene caused neurodevelopmental disorders, epilepsy, congenital heart disease, and facial dysmorphism.

De novo truncating variant in the FBRSL1 gene caused neurodevelopmental disorders, epilepsy, congenital heart disease, and facial dysmorphism.

Journal: Experimental neurology
Published: March 20, 2025

Variants in CSMD2 and CSMD3, genes involved in synaptogenesis, are associated with epilepsies.

Variants in CSMD2 and CSMD3, genes involved in synaptogenesis, are associated with epilepsies.

Journal: Epilepsia
Published: March 17, 2025

Genetic and expressional insights into the association of TRAPPC10 variants with neurodevelopmental disorders.

Genetic and expressional insights into the association of TRAPPC10 variants with neurodevelopmental disorders.

Journal: Neurogenetics
Published: December 23, 2024

Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants.

Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants.

Journal: Brain : a journal of neurology
Published: December 17, 2024

De novo TANC2 variants caused developmental and epileptic encephalopathy and epilepsy.

De novo TANC2 variants caused developmental and epileptic encephalopathy and epilepsy.

Journal: Epilepsia
Published: October 28, 2024

De novo KCNK4 variant caused epilepsy with febrile seizures plus, neurodevelopmental abnormalities, and hypertrichosis.

De novo KCNK4 variant caused epilepsy with febrile seizures plus, neurodevelopmental abnormalities, and hypertrichosis.

Journal: Frontiers in genetics
Published: September 21, 2024
Showing 1-12 of 19

Last Updated: 09/26/2026