{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Peng J"],"funding":["National Natural Science Foundation of China"],"pagination":["1196-1206"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6489871"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(12)"],"pubmed_abstract":["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
In this study, we recruited 56 Chinese families with WS of unknown etiology. Whole exome sequencing (WES) was performed to identify Mendelian inheritance rare or novel variants. The association between candidate genes and WS was analyzed from many aspects, including recurrent genes in patients, predicted variant effect on genes, human tolerance to deficient genes, gene"],"journal":["CNS neuroscience & therapeutics"],"pubmed_title":["Novel West syndrome candidate genes in a Chinese cohort."],"pmcid":["PMC6489871"],"funding_grant_id":["NO. 81671297","NO. 81771409","NO. 81771408","NO. 81371434","NO. 81370771","NO. 81701541","NO. 81301031"],"pubmed_authors":["He F","Ma YP","Chen C","Shi ZQ","Zhang W","Wu LW","Xia K","Yin F","Guo H","Pang N","Yang LF","Wang Y","Peng J"],"additional_accession":[]},"is_claimable":false,"name":"Novel West syndrome candidate genes in a Chinese cohort.","description":"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
In this study, we recruited 56 Chinese families with WS of unknown etiology. Whole exome sequencing (WES) was performed to identify Mendelian inheritance rare or novel variants. The association between candidate genes and WS was analyzed from many aspects, including recurrent genes in patients, predicted variant effect on genes, human tolerance to deficient genes, gene","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Dec","modification":"2026-04-13T23:17:22.198Z","creation":"2019-07-25T07:14:41Z"},"accession":"S-EPMC6489871","cross_references":{"pubmed":["29667327"],"doi":["10.1111/cns.12860"]}}