Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita

Muscle Nerve. 2018 Oct;58(4):E27-E28. doi: 10.1002/mus.26190. Epub 2018 Sep 3.

Authors

Tim van Osch¹, Bas C Stunnenberg², Damien Sternberg³, Bertjan J Kerklaan¹

Affiliations

¹ Departments of Neurology OLVG, OLVG West, Jan Tooropstraat 164, 1061 AE, Amsterdam and Zaans Medisch Centrum, Zaandam, the Netherlands.
² Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.
³ Assistance Publique Hôpitaux de Paris, Service de Biochimie, Hôpital Pitié-Salpêtrière, Paris, France.

PMID: 30028520
DOI: 10.1002/mus.26190

No abstract available

Keywords: Nav1.4; SCN4A; hypokalemic periodic paralysis; paramyotonia congenita; sodium channelopathy.

Publication types

Case Reports
Video-Audio Media

MeSH terms

Acetazolamide / therapeutic use
Carbonic Anhydrase Inhibitors / therapeutic use
Electromyography
Humans
Hypokalemia / drug therapy
Hypokalemia / etiology
Hypokalemia / metabolism
Hypokalemia / physiopathology*
Male
Middle Aged
Muscle Weakness / etiology
Muscle Weakness / metabolism
Muscle Weakness / physiopathology*
Mutation
Myotonic Disorders / complications
Myotonic Disorders / diagnosis
Myotonic Disorders / genetics
Myotonic Disorders / physiopathology*
NAV1.4 Voltage-Gated Sodium Channel / genetics
Neural Conduction
Potassium / therapeutic use

Substances

Carbonic Anhydrase Inhibitors
NAV1.4 Voltage-Gated Sodium Channel
SCN4A protein, human
Acetazolamide
Potassium