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Case Report

BTDMJB. 2009; 5(3): 120-122


Voltage dependent calcium channel mutation in a Turkish patient with hypokalemic periodic paralysis, R1239H: Case Report

Onur Sakallıoğlu, Faysal Gök, Halil İbrahim Aydın, Süleyman Kalman, Sabahattin Vurucu.

Abstract
Hypokalemic periodic paralysis (HPP) is a rare disease characterized by reversible attacks of muscle weakness accompanied by episodic hypokalemia. The most common causes of HPP are familial periodic paralysis (FPP), thyrotoxic periodic paralysis (TPP) and sporadic periodic paralysis (SPP), respectively. Recent molecular work has revealed that the majority of FPP and SPP is due to mutations in a skleletal muscle voltage-dependent calcium-channel: dihydropyridin receptor. We report a 13-yr- old boy with HPP. Genetic examination identified a mutation of nucleotide 1239 R (arginine) to H (histidine) in exon 30 of the calcium-channel gene, CACNA1S. This boy is the first case of HPP in whom CACNA1S mutation is reported from Turkey.

Key words: Hypokalemic periodic paralysis, voltage dependent calcium channel mutation, dyhidropyridine receptor, Turkey



Article Language: Turkish English



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