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List of works by Yuehua Zhang

A study on epileptic negative myoclonus in atypical benign partial epilepsy of childhood

scientific article published on 17 June 2008

ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy

scientific article published on 01 August 2005

ATP1A3 mosaicism in families with alternating hemiplegia of childhood

scientific article published on 03 April 2019

ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients

scientific article

Acute metabolic crisis induced by vaccination in seven Chinese patients.

scientific article

Alpers syndrome with prominent white matter changes

scientific article published on 17 October 2007

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome ⬇️

scientific article published on 19 June 2015

Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

scientific article published on 30 April 2010

Association between genetic variation of CACNA1H and childhood absence epilepsy

scientific article (publication date: August 2003)

Atonic elements combined or uncombined with epileptic spasms in infantile spasms

scientific article published on 20 November 2016

AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder

scientific article published on 01 January 2018

CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population

scientific article published on 01 September 2006

Childhood absence epilepsy: Elctroclinical features and diagnostic criteria

scientific article published on 7 April 2010

Clinical and biochemical studies on Chinese patients with methylmalonic aciduria

scientific article published on 01 December 2006

Clinical and electrophysiological characteristics of startle epilepsy in childhood

scientific article published on 13 January 2010

Clinical and genetic analysis of two Chinese infants with Mabry syndrome

scientific article published on 10 May 2016

Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria

scientific article published in May 2016

Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy

scientific article published on 21 August 2015

Clinical characteristics and prognosis analysis of vitamin B6 responsive infantile spasms

scientific article published in February 2016

Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants

scientific article

Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.

scientific article

Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population

scientific article published on 22 November 2006

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

scientific article published on 08 February 2009

Early childhood myoclonic epilepsy: An independent genetic generalized epilepsy with myoclonic seizures as the main seizure type

scientific article published on 6 July 2017

Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.

scientific article

Electro-clinical-etiological associations of epilepsia partialis continua in 57 Chinese children.

scientific article

Epilepsy in children with methylmalonic acidemia: electroclinical features and prognosis

scientific article published on 20 July 2011

Follow‐up study of 25 Chinese children with PLA2G6‐associated neurodegeneration ⬇️

scientific article published on August 31, 2012

Functional study of NIPA2 mutations identified from the patients with childhood absence epilepsy

scientific article

GRIN2A mutations in epilepsy-aphasia spectrum disorders

scientific article

Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities

scientific article

Genetic (idiopathic) epilepsy with photosensitive seizures includes features of both focal and generalized seizures.

scientific article

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

scientific article published on 25 August 2017

Genetics of the epilepsies: genetic twists in the channels and other tales.

scientific article published in February 2010

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

scientific article published on 15 November 2017

Genotype and phenotype of female Dravet syndrome with PCDH19 mutations

scientific article published in May 2016

Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.

scientific article published on 4 February 2012

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients

scientific article published on 16 February 2018

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

scientific article

Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease

scientific article published on 10 April 2017

Mosaicism and incomplete penetrance of mutations

scientific article published on 04 October 2018

Myoclonic epilepsy in infancy with preceding or concurrent afebrile generalized tonic-clonic seizures in Chinese children

scientific article published on 13 July 2017

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy ⬇️

scientific article published on February 26, 2012

NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population

article

New variants in the CACNA1H gene identified in childhood absence epilepsy

scientific article

Niemann-Pick disease type C: analysis of 7 patients ⬇️

scientific article published on June 1, 2011

Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients

scientific article published on 27 March 2017

Partial seizures and atypical absence seizures as a single ictal event in a patient with Lennox-Gastaut syndrome

scientific article

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

scientific article

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals

scientific article

SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.

scientific article

Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy

scientific article published on 01 June 2008

Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome

scientific article published in November 2017

T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population

scientific article published on 01 April 2003

The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population

scientific article published on 16 August 2016

The gene encoding GABBR1 is not associated with childhood absence epilepsy in the Chinese Han population

scientific article published on 01 June 2003

[Analysis of parental origin of de novo SCN1A mutations in Dravet syndrome]

scientific article published on 01 August 2015

[Clinical features and gene mutations in epilepsy of infancy with migrating focal seizures].

scientific article published in October 2016

[Genetic and phenotypic characteristics of SCN1A mutations in Dravet syndrome]

scientific article published on 01 December 2012

[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]

scientific article published on 01 April 2009

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