A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.
- Author(s): Benhammou, Jihane N
- Phan, Jennifer
- Lee, Hane
- Ghassemi, Kevin
- Parsons, William
- Grody, Wayne W
- Pisegna, Joseph R
- et al.
Published Web Locationhttps://doi.org/10.1007/s12031-016-0878-5
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.