Collaborator: Baylor University Medical Center
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HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Abstract Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants altering HCN channels have been reported so far. In 2014, we described five individuals with epileptic encephalopathy due to de novo HCN1 variants. To delineate HCN1-related disorders and investigate genotype–phenotype correlations further,…
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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
Abstract ClinVar provides open access to variant classifications shared from many clinical laboratories. Although most classifications are consistent across laboratories, classification differences exist. To facilitate resolution of classification differences on a large scale, clinical laboratories were encouraged to reassess outlier classifications of variants with medically significant differences (MSDs). Outliers were identified by first comparing ClinVar…
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Clinical and molecular characteristics of somatic NF1 mutations identified on hereditary cancer multi-gene panels
Among 153 patients found to have NF1 mutations on NGS, only about half (55%) reported a clinical diagnosis of NF1, suggesting the need for further study of the mutation only cohort to determine whether the phenotype associated with NF1 mutations is broader than originally thought, if this is a result of under diagnosis of clinical…