primary hypokalemic periodic paralysis is a familial channelopathy inherited as an autosomal dominant trait. the first attack of paralysis may be evolved at any age, but has been reported to be most common in the second decade, so that some authorities believe that an episodic weakness beginning after age 25 is almost never due to primary periodic paralysis. in this retrospective study, we revi...

Channelopathies are inherited genetic changes in ion channel genes that generate a disease. Given the pivotal role of voltage-dependent potassium channels in moderating neuronal excitability, it is not surprising that these channels are well represented among the channelopathies contributing to epilepsy. Voltage-dependent potassium channels are regarded as the “initial responders” that shape an...

Inherited channelopathies are at the origin of many neurological disorders. Here we report a form of channelopathy that is acquired in experimental temporal lobe epilepsy (TLE), the most common form of epilepsy in adults. The excitability of CA1 pyramidal neuron dendrites was increased in TLE because of decreased availability of A-type potassium ion channels due to transcriptional (loss of chan...

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...

Hypokalemic periodic paralysis is a rare but serious disorder that is typically caused by a channelopathy. Thyrotoxicosis, heavy exercise, high carbohydrate meal and some drugs can trigger channelopathy in genetically predisposed individuals. A 33-year-old male patient presented to the emergency department with weakness in the lower extremities. He stated that he had done heavy physical activit...

Congenital or familial short QT syndrome is a genetically heterogeneous cardiac channelopathy without structural heart disease that has a dominant autosomal or sporadic pattern of transmission affecting the electric system of the heart. Patients present clinically with a spectrum of signs and symptoms including irregular palpitations due to episodes of paroxysmal atrialfibrillation, dizziness a...

Clinical, electrophysiological, and molecular findings are reported for a family with dominant myotonia congenita in which all affected members have experienced long-term fluctuations of the symptom of myotonia. In some patients myotonia is combined with myalgia. The myotonia-causing mutation in this family is in the gene encoding the muscular chloride channel, hCIC-1, predicting the amino acid...