In a major breakthrough in our understanding of human olfaction, a recent study showed that loss-of-function mutations in the voltage-gated sodium channel Nav1.7, encoded by the gene SCN9A, cause a loss of the sense of smell (congenital general anosmia) in mice and humans. These findings are of special clinical relevance because Nav1.7 was previously known for its essential role in the percepti...

Background Congenital Indifference to Pain (CIP) is a rare condition that inhibits the ability of patients to perceive physical pain but otherwise keeps normal sensory modalities. The condition has been mapped to an autosomal recessive trait to chromosome 2q 24.3 with mutations on the SCN9A gene. Case report A 2 year old Caucasian female presented with CIP. Bite injuries, tongue wounds and unac...

Ca(2+)-calmodulin (CaM) regulates varieties of ion channels, including Transient Receptor Potential vanilloid subtype 4 (TrpV4). It has previously been proposed that internal Ca(2+) increases TrpV4 activity through Ca(2+)-CaM binding to a C-terminal Ca(2+)-CaM binding domain (CBD). We confirmed this model by directly presenting Ca(2+)-CaM protein to membrane patches excised from TrpV4-expressin...

Brugada syndrome is a rare inherited channelopathy associated with an increased risk of ventricular tachycardia and fibrillation, leading to syncope sudden cardiac death. We present case report young patient inducible type 1 pattern on electrocardiogram (ECG), accompanied by comprehensive literature review. The 19-year-old presented dizziness exhibited 2 admission ECG, which converted following...