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• W4214838010 abstract "Abstract Background West syndrome is a devastating disorder characterized by a triad of epileptic spasms, abnormal electroencephalography (EEG), and developmental arrest or psychomotor delay. In addition to early diagnosis, knowing the etiology of the condition is also important for its treatment. Among various etiologies, the genetic factors, especially mutations of ion channel genes, are very common and strongly linked to West syndrome. Case presentation A boy who had epileptic spasms from the age of 4 months was diagnosed with West syndrome based on the clinical manifestation and EEG results in Shenzhen Children’s Hospital in June 2019. Trios whole-exome sequencing (WES) test and protein structural model prediction were performed. We also reviewed the clinical and genetic features of this syndrome and the mechanisms of action of topiramate (TPM) by literature search in databases of Online Mendelian Inheritance in Man, Clinical Genome Resource, PubMed, Chinese National Knowledge Infrastructure and Wanfang database using keywords “ KCNA2 ” “West syndrome” and “Topiramate” by December 2020. The relationship between the effect of TPM and the pathogenesis of the KCNA2 variant was also assessed. The WES test revealed c.244C > T/p. Arg82Cys varaint of KCNA2 (NM_004974.3) in this patient, and Sanger sequencing identified this was a de novo mutation. As far as we know, this is the first report of the c.244C > T/p. Arg82Cys variant in KCNA2 , which was likely a pathogenic mutation. The seizures were successfully controlled for 10 months by TPM after failure of sodium valproate, large doses of vitamin B6, and adrenocorticotropic hormone. We speculate that the therapeutic effect of TPM in this patient is partially due to the inhibition of carbonic anhydrase. Conclusions Mutations in the KCNA2 gene should be considered for patients with West syndrome. The TPM treatment is probably effective for KCNA2 -associated disorders." @default.
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• W4214838010 date "2022-03-02" @default.
• W4214838010 modified "2023-10-05" @default.
• W4214838010 title "Successful medical treatment of west syndrome with a KCNA2 variant: a case report" @default.
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• W4214838010 doi "https://doi.org/10.1186/s42494-021-00069-7" @default.
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