title: A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.
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.
authors.affiliation: 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.|Division of Gastroenterology, Hepatology and Parenteral Nutrition, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd, Los Angeles, CA, 90073, USA.
authors.forename: Jihane N
authors.initials: JN
authors.lastname: Benhammou
authors.affiliation: 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.|Division of Gastroenterology, Hepatology and Parenteral Nutrition, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd, Los Angeles, CA, 90073, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Phan
authors.affiliation: 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.|Division of Gastroenterology, Hepatology and Parenteral Nutrition, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd, Los Angeles, CA, 90073, USA.
authors.forename: Hane
authors.initials: H
authors.lastname: Lee
authors.affiliation: 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.|Division of Gastroenterology, Hepatology and Parenteral Nutrition, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd, Los Angeles, CA, 90073, USA.
authors.forename: Kevin
authors.initials: K
authors.lastname: Ghassemi
authors.affiliation: 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.|Division of Gastroenterology, Hepatology and Parenteral Nutrition, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd, Los Angeles, CA, 90073, USA.
authors.forename: William
authors.initials: W
authors.lastname: Parsons
authors.affiliation: 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.|Division of Gastroenterology, Hepatology and Parenteral Nutrition, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd, Los Angeles, CA, 90073, USA.
authors.forename: Wayne W
authors.initials: WW
authors.lastname: Grody
authors.affiliation: 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. joseph.pisegna@va.gov.|Division of Gastroenterology, Hepatology and Parenteral Nutrition, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd, Los Angeles, CA, 90073, USA. joseph.pisegna@va.gov.
authors.forename: Joseph R
authors.initials: JR
authors.lastname: Pisegna
mesh_terms: D003680:Deglutition Disorders / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D020125:Mutation, Missense; D009222:Myotonia / Q000175:diagnosis / Q000235:genetics*; D062553:NAV1.4 Voltage-Gated Sodium Channel / Q000235:genetics*; D011188:Potassium / Q000378:metabolism; D013577:Syndrome
chemical_list: D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D011188:Potassium
keywords: Dysphagia; Myotonia; SCN4A