Total: 1 |
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PMID (PMCID) | ||
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23129781 (3594382) |
MIXED_SAMPLE | Child |
Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia. | ||
Klein CJ, Wu Y, Kilfoyle DH, Sandroni P, Davis MD, Gavrilova RH, Low PA, Dyck PJ. J Neurol Neurosurg Psychiatry. 2013;84(4):386-91. |
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Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy. |