Hyperkalaemic periodic paralysis: clinical features
Evidence-based neurology checklist on hyperkalaemic periodic paralysis: clinical features: Genetics It is a sodium channelopathy It is caused by mutations in the SCN4A gene The transmission is autosomal dominant It results in recurrent attacks of weakness Sporadic cases have been reported It may…
Genetics
- It is a sodium channelopathy
- It is caused by mutations in the SCN4A gene
- The transmission is autosomal dominant
- It results in recurrent attacks of weakness
- Sporadic cases have been reported
- It may overlap with paramyotonia congenita (HyperPP/PMC)
Onset features
Attack pattern
Attack triggers
Attack features
Inter-ictal features
Differential diagnosis
References
- Bertorini TE. Neuromuscular Disorders: Treatment and Management. Elsevier 2011 Philadelphia p297.
- Venance SL, Cannon SC, Fialho D, et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain 2006; 129:8-17.
- Meola G, Hanna MG, Fontaine B. Diagnosis and new treatment in muscle channelopathies. JNNP 2009; 80:360-365.
- Segawa K, Nishiyama M, Mori I, Kubota T, Takahashi MP. Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4. Brain Dev 2023; 45:205-211.
- Quiroga-Carrillo M, Correa-Arrieta C, Ortiz-Corredor F, Suarez-Obando F. Hyperkalemic periodic paralysis: case report with a SCNA4 gene mutation and literature review. Case Rep Genet 2020; 2020:8843410.
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