Publications by authors named "Lola K Clarkson"
Ion channels mediate voltage fluxes or action potentials that are central to the functioning of excitable cells such as neurons. The KCNB family of voltage-gated potassium channels (Kv) consists of two members (KCNB1 and KCNB2) encoded by KCNB1 and KCNB2, respectively. These channels are major contributors to delayed rectifier potassium currents arising from the neuronal soma which modulate overall excitability of neurons.
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- * Approximately 25% of those with these variants exhibited a Noonan-like phenotype, notably more than traditional NF1 patients (p < .0001), with p.Arg1276 and p.Lys1423 linked to serious cardiovascular issues.
- * The p.Met1149 variant presented a milder phenotype mainly with skin symptoms, affecting 0.4% of the UAB cohort, highlighting important genotype-phenotype correlations that can improve patient counseling and