Genetic Variant and Phenotypic Heterogeneity
A major issue in genetic disorders is to find out clues, which may help to interpret the phenotypic heterogeneity, in order to provide more precise diagnoses and more significant prognostic and therapeutic implications [1,2]. That’s particularly true for mutations, whose pathogenic significance is often challenging and of uncertain significance. Lopes-Cendes et al [3] turned their attention to Dravet syndrome (DS), a severe epileptic encephalopathy of childhood onset with intellectual disability, chronic course, and highly resistant to treatment. DS is associated to mutations in SCN1A, encoding the neuronal voltage-gated sodium channel Nav1.1, whose variants are detected in 70-80% of patients.
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