Sai Yang

No.86 Ziyuan Road
Changsha, 410007, China

Last Updated: 09/26/2026

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Found 18 publications

A novel de novo QRICH1 variant causing Ververi-Brady syndrome with infantile epileptic spasms syndrome: clinical and genetic analysis.

A novel de novo QRICH1 variant causing Ververi-Brady syndrome with infantile epileptic spasms syndrome: clinical and genetic analysis.

Journal: Frontiers in neuroscience

Published: April 06, 2026

Progress in the preparation of an active immunization model of anti-N-methyl-D-aspartate receptor encephalitis in animals.

Progress in the preparation of an active immunization model of anti-N-methyl-D-aspartate receptor encephalitis in animals.

Journal: Frontiers in immunology

Published: February 28, 2025

Genetic analysis of a child with Leukoencephalopathy with ataxia caused by a homozygous variant of CLCN2 gene and a literature review

Genetic analysis of a child with Leukoencephalopathy with ataxia caused by a homozygous variant of CLCN2 gene and a literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: January 08, 2025

Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.

Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: December 29, 2021

Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures.

Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures.

Journal: Scientific reports

Published: November 25, 2021

Case Report: Compound Heterozygous Variants of SLC13A3 Identified in a Chinese Patient With Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation.

Case Report: Compound Heterozygous Variants of SLC13A3 Identified in a Chinese Patient With Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation.

Journal: Frontiers in pediatrics

Published: October 25, 2021

Quantitative proteomic analysis of cerebrospinal fluid reveals CD163, A2M and full-length APP as potential diagnostic biomarkers of paediatric bacterial meningitis.

Quantitative proteomic analysis of cerebrospinal fluid reveals CD163, A2M and full-length APP as potential diagnostic biomarkers of paediatric bacterial meningitis.

Journal: Proteome science

Published: September 09, 2021

Krabbe Disease Associated With Mitochondrial Dysfunction in a Chinese Family.

Krabbe Disease Associated With Mitochondrial Dysfunction in a Chinese Family.

Journal: Frontiers in neurology

Published: July 30, 2021

Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.

Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.

Journal: Developmental medicine and child neurology

Published: June 02, 2021

MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review.

MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review.

Journal: Medicine

Published: May 25, 2021

CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.

CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.

Journal: Medicine

Published: March 03, 2021

Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.

Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.

Journal: Neurogenetics

Published: February 12, 2021

Showing 1-12 of 18

Last Updated: 09/26/2026