We report the clinical features of, and the molecular study performed on, a Spanish family with essential tremor (ET), late onset epilepsy and autosomal dominant hypokalemic periodic paralysis (hypoPP). The presence of hypoPP in this kindred suggested an ion channel as a candidate gene for ET. Our study identified an Arg528His CACNL1A3 mutation in patients with hypoPP, and excluded this mutatio...

MinK-related peptide 2 (MiRP2) and Kv3.4 subunits assemble in skeletal muscle to create subthreshold, voltage-gated potassium channels. MiRP2 acts on Kv3.4 to shift the voltage dependence of activation, speed recovery from inactivation, suppress cumulative inactivation and increase unitary conductance. We previously found an R83H missense mutation in MiRP2 that segregated with periodic paralysi...

Hypokalemic periodic paralysis is one of the most distinctive complications of hyperthyroidism and occurs in 8 to 34% of men and 0.2% of women with thyrotoxicosis in Asia. It is also complicated by other diseases with potassium defi ciency such as Bartter’s syndrome, Cushing’s syndrome, and Gitelman’s syndrome. Generally, hypokalemic periodic paralysis with hyperthyroidism is diagnosed by asses...

Objectives. To describe 2 cases of thyrotoxic periodic paralysis. Methods. We report of 2 cases of thyrotoxic periodic paralysis in 2 individuals from 2 different backgrounds with emphasis on their presentation and treatment. We also conducted a literature search to put together an update review of thyrotoxic periodic paralysis. Results. A 47-year-old Chinese and 28-year-old Caucasian male pres...

Hypokalemic periodic paralysis and normokalemic periodic paralysis are caused by mutations of the gating charge-carrying arginine residues in skeletal muscle Na(V)1.4 channels, which induce gating pore current through the mutant voltage sensor domains. Inward sodium currents through the gating pore of mutant R666G are only approximately 1% of central pore current, but substitution of guanidine ...

Familial hypokalemic periodic paralysis (HOPP) is a rare autosomal-dominant disease characterized by reversible attacks of muscle weakness occurring with episodic hypokalemia. Mutations in the skeletal muscle calcium (CACNA1S) and sodium channel (SCN4A) genes have been reported to be responsible for familial HOPP. Fifty-one HOPP patients from 20 Korean families were studied to determine the rel...

A 16-year-old Japanese boy with a history of truancy had been treated at a psychiatric clinic. When the patient was referred to us for hypokalemia-associated paralysis, the diagnosis of thyrotoxic hypokalemic periodic paralysis was made, common in Asian men. Subsequently, the patient was found to have persistently high plasma renin and aldos-terone levels. Thus, solute carrier family 12 member ...

Schwartz-Jampel syndrome (SJS) is a rare syndrome that is clinically characterized by myotonia and skeletal abnormalities. Most reports regarding SJS have stated that patients with SJS are susceptible to malignant hyperthermia (MH). The statement is incorrect. There is no report showing that SJS is related to MH. Scientific evidence also shows that patients with myotonias are not susceptible to...

We present a serologically proven case of WNV encephalitis in a young, pregnant woman with cranial and spinal MRI findings who was seen for asymmetric, flaccid paralysis of her extremities. Cranial MRI findings were nonspecific, as reported in reviews of West Nile virus encephalitis. Her spinal MRI displayed enhancement of the cauda equina described infrequently in the literature. Knowledge of ...

Characteristic Strain GenBank accession no. KT818796 KT818795 KT818793 KT818794 Country of isolation Niger Guinea Senegal Mauritania Region Zinder Labé Thies Assaba Sex M M F F Age at diagnosis, y 1.3 1.7 3 1.6 Paralysis onset date 2013/02/26 2013/04/24 2014/03/17 2014/05/06 Date of first sampling 2013/03/06 2013/04/29 2014/03/26 2014/05/22 Fever at onset of paralysis yes yes yes yes Progressiv...