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

Jihane N Benhammou; Jennifer Phan; Hane Lee; Kevin Ghassemi; William Parsons; Wayne W Grody; Joseph R Pisegna

doi:10.1007/s12031-016-0878-5

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

J Mol Neurosci. 2017 Mar;61(3):312-314. doi: 10.1007/s12031-016-0878-5. Epub 2016 Dec 23.

Authors

Jihane N Benhammou^{1

2}, Jennifer Phan^{1

2}, Hane Lee^{1

2}, Kevin Ghassemi^{1

2}, William Parsons^{1

2}, Wayne W Grody^{1

2}, Joseph R Pisegna^{3

4}

Affiliations

¹ Division of Digestive Diseases, Department of Medicine, and Departments of Pathology & Laboratory Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
² Division of Gastroenterology, Hepatology and Parenteral Nutrition, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd, Los Angeles, CA, 90073, USA.
³ Division of Digestive Diseases, Department of Medicine, and Departments of Pathology & Laboratory Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. [email protected].
⁴ Division of Gastroenterology, Hepatology and Parenteral Nutrition, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd, Los Angeles, CA, 90073, USA. [email protected].

Abstract

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.

Keywords: Dysphagia; Myotonia; SCN4A.

Publication types

Case Reports

MeSH terms

Deglutition Disorders / diagnosis
Deglutition Disorders / genetics*
Female
Humans
Middle Aged
Muscle, Skeletal / metabolism
Muscle, Skeletal / physiopathology
Mutation, Missense*
Myotonia / diagnosis
Myotonia / genetics*
NAV1.4 Voltage-Gated Sodium Channel / genetics*
Potassium / metabolism
Syndrome

Substances

NAV1.4 Voltage-Gated Sodium Channel
SCN4A protein, human
Potassium

Abstract

Publication types

MeSH terms

Substances

Grants and funding