Triplication of the <i>PCDH19</i> Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants.

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第一作者： Alba,Gabaldón-Albero

第一单位： Translational Research Group in Genetics, La Fe Health Research Institute, 46026 Valencia, Spain.

作者： Alba,Gabaldón-Albero ^[1] ; Patricia,Smeyers ^[2] ; Sara,Hernández-Muela ^[2] ; Mónica,Roselló ^[3] ; Carmen,Orellana ^[3] ; Sandra,Monfort ^[3] ; Silvestre,Oltra ^[3] ; Francisco,Martínez ^[3]

作者单位： Translational Research Group in Genetics, La Fe Health Research Institute, 46026 Valencia, Spain. ^[1] Pediatric Neurology Section, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain. ^[2] Translational Research Group in Genetics, La Fe Health Research Institute, 46026 Valencia, Spain.;Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain. ^[3]

关键词 PCDH19 clustering epilepsy early-onset epilepsy gain-of-dosage genetic variant uniparental isodisomy

主题词女(雌)性(Female);人类(Humans);男(雄)性(Male);钙黏着糖蛋白类(Cadherins);癫痫(Epilepsy);杂合子(Heterozygote);表型(Phenotype)

DOI 10.3390/genes15101312

PMID 39457436

发布时间 2025-04-02

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