Hypokalaemic periodic paralysis: clinical features
Evidence-based neurology checklist on hypokalaemic periodic paralysis: clinical features: Genetic types Type 1: with CACNA1AS mutations: this accounts for 70% of cases Type 2: with SCN4A mutation MCM3AP mutation has also been reported Genetics transmission Prodrome Clinical features Differential…
Genetic types
- Type 1: with CACNA1AS mutations: this accounts for 70% of cases
- Type 2: with SCN4A mutation
- MCM3AP mutation has also been reported
Genetics transmission
Prodrome
Clinical features
Differential diagnosis
References
- Bertorini TE. Neuromuscular Disorders: Treatment and Management. Elsevier Philadelphia 2011 p297-298.
- 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.
- Gustavsson EK, Follett J, Farrer MJ, Aasly JO. Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport. Muscle Nerve 2019; 60:311-314.
- Oishi T, Pagano J, Sellers C, Jerath NU. Two cases of periodic paralysis associated with MCM3AP variants. J Clin Neuromuscul Dis 2023; 25:36-41.
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