ArticleFrontiers in neurology
A homozygous missense variant, p.Ser166Leu in the
Article in Frontiers in neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: We leveraged consanguinity and population endogamy in a large four generation Turkish family with ET. Examination of clinical features and genetic analysis identified a homozygous Methods: The ET family is of Turkish origin. The proband and relatives were evaluated at Ankara University Medical School and Bilkent University (Ankara, Turkey). A second evaluation of the clinical and videotape data was performed at Yale University. A total of 6 individuals from the family were clinically assessed. Whole genome sequencing and autozygosity mapping was performed in affected and unaffected family members. Transient transfection of HEK293T cells was performed to assess pathogenicity of the Results: A total of 4 family members were diagnosed with ET; two individuals also had a diagnosis of Parkinson's Disease (PD). We identified a missense variant in Discussion: The
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