Jian Zha

Nanchang, China

Last Updated: 09/26/2026

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Found 17 publications

A Novel De Novo Frameshift Variant of TBL1XR1 Leads to Neurodevelopmental Disorders and Treatment Experience.

A Novel De Novo Frameshift Variant of TBL1XR1 Leads to Neurodevelopmental Disorders and Treatment Experience.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: April 14, 2026

LAMA2 variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study.

LAMA2 variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study.

Journal: Frontiers in neurology

Published: October 20, 2025

Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism.

Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: May 14, 2025

Identification of novel BCL11A variant in a patient with developmental delay and behavioural differences.

Identification of novel BCL11A variant in a patient with developmental delay and behavioural differences.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: July 10, 2024

A newborn with convulsions 12 days after birth was misdiagnosed as neonatal intracranial hemorrhage: Case report.

A newborn with convulsions 12 days after birth was misdiagnosed as neonatal intracranial hemorrhage: Case report.

Journal: Medicine

Published: January 11, 2024

Identification of a novel METTL23 gene variant in a patient with an intellectual development disorder: a literature review and case report.

Identification of a novel METTL23 gene variant in a patient with an intellectual development disorder: a literature review and case report.

Journal: Frontiers in pediatrics

Published: October 26, 2023

Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts.

Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts.

Journal: Molecular genetics & genomic medicine

Published: July 18, 2023

Efficacy and safety of phenobarbital for benign convulsions with mild gastroenteritis: A prospective randomized controlled study.

Efficacy and safety of phenobarbital for benign convulsions with mild gastroenteritis: A prospective randomized controlled study.

Journal: Medicine

Published: December 23, 2022

Case report: A novel de novo variant of SCN8A in a child with benign convulsions with mild gastroenteritis.

Case report: A novel de novo variant of SCN8A in a child with benign convulsions with mild gastroenteritis.

Journal: Frontiers in neurology

Published: July 16, 2022

Ketogenic Diet Therapy for Drug-Resistant Epilepsy and Cognitive Impairment in Children With Tuberous Sclerosis Complex.

Ketogenic Diet Therapy for Drug-Resistant Epilepsy and Cognitive Impairment in Children With Tuberous Sclerosis Complex.

Journal: Frontiers in neurology

Published: February 01, 2022

Efficacy of the ketogenic diet on ACTH- or corticosteroid-resistant infantile spasm: a multicentre prospective control study.

Efficacy of the ketogenic diet on ACTH- or corticosteroid-resistant infantile spasm: a multicentre prospective control study.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: March 27, 2021

Clinical characteristics and ketogenic diet therapy of glucose transporter type 1 deficiency syndrome in children: a multicenter clinical study

Clinical characteristics and ketogenic diet therapy of glucose transporter type 1 deficiency syndrome in children: a multicenter clinical study

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

Published: October 29, 2020

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Last Updated: 09/26/2026