Alternating hemiplegia and paroxysmal torticollis caused by SCN4A mutation: A new phenotype?
Journal
Neurology
Journal Volume
93
Journal Issue
15
Pages
673-674
Date Issued
2019
Author(s)
Abstract
The SCN4A gene encodes NaV1.4, a voltage-gated sodium channel, located mostly in the skeletal muscles. Mutation of SCN4A may cause muscular disorders, including hypo/hyperkalemic periodic paralysis, paramyotonia congenita, potassium aggravated myotonia, and congenital myasthenic syndrome.1 However, the mutation of SCN4A has also been suggested to be associated with epilepsy in recent years. We identified a rare mutation of SCN4A c.3238A > G in a child who presented with epilepsia partialis continua (EPC), alternating hemiplegia, and paroxysmal torticollis and showed a good response to acetazolamide treatment. This may be a new presentation of SCN4A mutation.
SDGs
Publisher
NLM (Medline)
Type
journal article