Pan Peng

87 Xiangya Road
Changsha, 410008, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 11 publications

WDR26-related Skraban-Deardorff syndrome: clinical, genetic and pathomechanistic insights.

WDR26-related Skraban-Deardorff syndrome: clinical, genetic and pathomechanistic insights.

Journal: European journal of medical research

Published: June 25, 2025

The phenotypic and genetic spectrum of AKT3-related neurodevelopmental condition.

The phenotypic and genetic spectrum of AKT3-related neurodevelopmental condition.

Journal: Scientific reports

Published: November 09, 2024

Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation: a case report

Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation: a case report

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: August 16, 2024

Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in Patients and a Murine Model.

Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in Patients and a Murine Model.

Journal: Annals of neurology

Published: October 16, 2023

Factors influencing the efficacy of initial adrenocorticotropic hormone therapy for infantile epileptic spasms syndrome

Factors influencing the efficacy of initial adrenocorticotropic hormone therapy for infantile epileptic spasms syndrome

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: January 19, 2023

Etiologic Classification of 541 Infantile Spasms Cases: A Cohort Study.

Etiologic Classification of 541 Infantile Spasms Cases: A Cohort Study.

Journal: Frontiers in pediatrics

Published: September 13, 2021

Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases

Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: June 24, 2020

The patterns of response of 11 regimens for infantile spasms.

The patterns of response of 11 regimens for infantile spasms.

Journal: Scientific reports

Published: March 21, 2020

Diagnosis of intellectual disability/global developmental delay via genetic analysis in a central region of China.

Diagnosis of intellectual disability/global developmental delay via genetic analysis in a central region of China.

Journal: Chinese medical journal

Published: June 18, 2019

Ketogenic Diet as a Treatment for Super-Refractory Status Epilepticus in Febrile Infection-Related Epilepsy Syndrome.

Ketogenic Diet as a Treatment for Super-Refractory Status Epilepticus in Febrile Infection-Related Epilepsy Syndrome.

Journal: Frontiers in neurology

Published: December 12, 2018

Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy.

Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy.

Journal: CNS neuroscience & therapeutics

Published: January 06, 2018

Showing 1-11 of 11

Last Updated: 09/26/2026