Key result
Acetazolamide yields a good clinical response in a child with a rare SCN4A mutation.
Why the study?
SCN4A mutations typically cause muscular disorders, but have recently been suggested to be associated with epilepsy.
Case Report (n=1)
A rare SCN4A mutation may present with alternating hemiplegia and paroxysmal torticollis, which responds to acetazolamide.
Acetazolamide may warrant trial in SCN4A-related alternating hemiplegia; single case leaves open need for controlled confirmation.
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.
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Duan et al. (2019) conducted a case report in SCN4A mutation presenting with epilepsia partialis continua, alternating hemiplegia, and paroxysmal torticollis (n=1). Acetazolamide was evaluated on Clinical response. A child with a rare SCN4A c.3238A > G mutation presenting with epilepsia partialis continua, alternating hemiplegia, and paroxysmal torticollis showed a good response to acetazolamide treatment.
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