ISSN: 2149-2247 | E-ISSN: 2149-2549
Erciyes Medical Journal Familial Hypokalemic Periodic Paralysis with Mutation in a Voltage-Gated Calcium Channel [Erciyes Med J]
Erciyes Med J. 2023; 45(1): 98-100 | DOI: 10.14744/etd.2021.66066

Familial Hypokalemic Periodic Paralysis with Mutation in a Voltage-Gated Calcium Channel

Esma Altınel Acoğlu1, Bilge Akkaya1, Burcu Sarıgül1, Saliha Senel2
1Department of Pediatrics, Dr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Ankara, Türkiye
2Department of Pediatric Emergency Medicine, Ankara Yıldırım Beyazıt University, Ankara City Hospital, Ankara, Türkiye

Background: Familial hypokalemic periodic paralysis (FHPP) is an autosomal dominant disease presented by the presence of painless weakness attacks accompanied by a low level of serum potassium. Mutations in genes encoding ion channels Calcium voltage-gated channel subunit alpha 1S, SCN4, and KCNJ2 have been recognized in this disorder.
Case Report: A 15-year-old male patient was admitted to our hospital with a complaint of muscle weakness, which started about 4 years ago, recurring almost twice a week. Especially when he ate carb-rich meals or stayed after a long time in the cold, he described a feeling of numbness and weakness. FHPP was diagnosed due to CACNA1S gene mutation from the family in which six members are affected in three generations.
Conclusion: FHPP, which is an uncommon cause in cases presenting with sudden muscle weakness, is an important neu-romuscular emergency, which should be kept in mind and may cause mortal results when not treated.

Keywords: CACNA1S, familial periodic paralysis, hypokalemia, hypokalemic periodic paralysis, muscle weakness.

Esma Altınel Acoğlu, Bilge Akkaya, Burcu Sarıgül, Saliha Senel. Familial Hypokalemic Periodic Paralysis with Mutation in a Voltage-Gated Calcium Channel. Erciyes Med J. 2023; 45(1): 98-100

Corresponding Author: Esma Altınel Acoğlu, Türkiye
Manuscript Language: English
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