A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.

The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogeneous group of conditions that include hyperkalemic periodic paralysis, paramyotonica congenita, potassium-aggravated myotonia, and hypokalemic periodic paralysis type 2. This case report proposes that a rare variant p.Pro1629Leu in SCN4A can cause a skeletal muscle deficit with intermittent dysphagia.

Citation

Jihane N Benhammou, Jennifer Phan, Hane Lee, Kevin Ghassemi, William Parsons, Wayne W Grody, Joseph R Pisegna. A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant. Journal of molecular neuroscience : MN. 2017 Mar;61(3):312-314

Mesh Tags

Substances

PMID: 28012096

search → result