Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

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Structured PICO

Population

A Chinese family with primary erythermalgia and a sporadic patient

Intervention

Linkage analysis and mutation screening of SCN9A and GCA genes

Outcome

Identification of causative gene mutations for primary erythermalgia

Mutations in the SCN9A gene, which encodes a voltage-gated sodium channel alpha subunit, were identified as the cause of primary erythermalgia.

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Supports SCN9A as causative in primary erythermalgia; leaves open validation and therapeutic exploration in larger cohorts.

Ying Yang (2004) studied this question.

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