Retinal neural transmission represents a key function of the eye. Identifying the molecular components of this vital process is helped by studies of selected human genetic eye disorders. For example, mutations in the calcium channel subunit gene CACNA1F cause incomplete X-linked congenital stationary night blindness (CSNB2 or iCSNB), a human retinal disorder with abnormal electrophysiological r...

Objective: To assess neuromuscular transmission (NMT) in patients with Meniere's disease (MD), in which the precise etiology is unknown and a channelopathy hypothesis has been proposed Methods: Single fiber electromyography (SFEMG) during voluntary contraction of the extansor digitorum communis muscle, nerve conduction studies of upper and lower extremities and concentric needle electromyograph...

OBJECTIVE The role of electrophysiology study in Brugada syndrome (BS) sudden cardiac death risk stratification remains controversial and seems to depend on the phenotypic expression of the channelopathy. Ajmaline has a key role in the diagnosis of BS. We observed that programmed electrical stimulation (PES) of the right ventricular outflow tract (RVOT), only when type 1 BS ECG is unmasked by a...

Ion channelopathy is a proven cause of inherited human epilepsy, and may play a role in acquired epileptic syndromes as well. Of the many ion channel causes of epilepsy, the h-channel is a potential new addition. H-channels are voltage-gated ion channels with unique biophysical properties. The h-channel exerts a significant modulatory influence on neuronal excitability, and is a target of antie...

Although bipolar disorder (BP) is one of the most heritable psychiatric conditions, susceptibility genes for the disorder have yet to be conclusively identified. It is likely that variants in multiple genes across multiple pathways contribute to the genotype-phenotype relationship in the affected population. Recent evidence from genome-wide association studies implicates an entire class of gene...