Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel West syndrome candidate genes in a Chinese cohort.

CNS neuroscience & therapeutics - 1 Dec 2018

Peng Jing, Wang Ying, He Fang, Chen Chen, Wu Li-Wen, Yang Li-Fen, Ma Yu-Ping, Zhang Wen, Shi Zi-Qing, Chen Chao, Xia Kun, Guo Hui, Yin Fei, Pang Nan

Abstract excerpt

AIMS: West syndrome (WS) is a classic form of early infantile epileptic encephalopathy (EIEE) characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on electroencephalography. Genetic defects play a critical role in the pathology of WS, and 54 EIEE genes have been identified till date. This study was designed to uncover new candidate genes for West syndrome. METHODS:...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium Signaling
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Databases, Genetic

Share to Electroencephalography

Share to Exome Sequencing

Share to Infant, Newborn

Share to Protein Interaction Maps

Share to Spasms, Infantile

Source

Open in PubMed Open full text

Identifiers

PMID: 29667327
DOI: 10.1111/cns.12860
PMCID: PMC6489871

Genes

CLCN6
CYFIP1
CYFIP2
GNB1
GPT2
HUWE1
NOS3
RYR1
RYR2
RYR3
TAF1
TECTA
UBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel West syndrome candidate genes in a Chinese cohort.PMID 29667327Read ↗

Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.Semantic proximity Read ↗

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Semantic proximity Read ↗

Exome Sequencing of 963 Chinese Families Identifies Novel Epilepsy Candidate GenesSemantic proximity Read ↗

Identification of novel causative genes of childhood epileptic encephalopathiesSemantic proximity Read ↗

Clinical features and underlying genetic causes in neonatal encephalopathy: A large cohort study.Semantic proximity Read ↗

Exome Sequencing of 963 Chinese Families Identifies Novel Epilepsy Candidate GenesSemantic proximity Read ↗

[Clinical and genetic analysis of a child with West syndrome due to a de novo variant of NEXMIF gene].Semantic proximity Read ↗

Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing.Semantic proximity Read ↗

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.Semantic proximity Read ↗

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.Semantic proximity Read ↗

Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.Semantic proximity Read ↗

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patientsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.