Gene table: search width pubmed_id = 28262468


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Congenital Myopathy related to SCN4A - (AR)
3.59
26700687
28262468
30283817
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha
* Hyperkalemic periodic paralysis - HYPP
* Myotonia potassium-aggravatd
* Sodium-channel myasthenia
* Myasthenic syndrome, acetazolamide-responsive
* Congenital Myopathy related to SCN4A
* Severe foetal hypokinesia related to SCN4A
* Hyperkalemic periodic paralysis, type 2 - HOKPP2
* Paramyotonia congenita of Von Eulenburg - PMC
* Potassium-aggravated myotonia