Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel

Epilepsy Research
Andrew HesseHoney V Reddi

Abstract

Epilepsy is a diverse neurological condition with extreme genetic and phenotypic heterogeneity. The introduction of next-generation sequencing into the clinical laboratory has made it possible to investigate hundreds of associated genes simultaneously for a patient, even in the absence of a clearly defined syndrome. This has resulted in the detection of rare and novel mutations at a rate well beyond our ability to characterize their effects. This retrospective study reviews genotype data in the context of available phenotypic information on 305 patients spanning the epileptic spectrum to identify established and novel patterns of correlation. Our epilepsy panel comprising 377 genes was used to sequence 305 patients referred for genetic testing. Qualifying variants were annotated with phenotypic data obtained from either the test requisition form or supporting clinical documentation. Observed phenotypes were compared with established phenotypes in OMIM, published literature and the ILAEs 2010 report on genetic testing to assess congruity with known gene aberrations. We identified a number of novel and recognized genetic variants consistent with established epileptic phenotypes. Forty-one pathogenic or predicted deleterious varia...Continue Reading

Citations

Jun 25, 2019·Molecular Genetics & Genomic Medicine·Sachiko MiyamotoHirotomo Saitsu
Dec 14, 2019·Neurogenetics·Simona PellacaniFilippo Maria Santorelli
Feb 9, 2021·Molecular Genetics and Metabolism Reports·Dulce QuelhasEsmeralda Martins
Nov 2, 2021·Frontiers in Molecular Neuroscience·Xiao-Rong LiuWei-Ping Liao

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