期刊
JOURNAL OF AAPOS
卷 19, 期 5, 页码 478-479出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jaapos.2015.05.015
关键词
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The SCN9A gene codes for the sodium voltage-gated channel NaV 1.7. Gain of function mutations cause pain disorders such as primary erythromelalgia, paroxysmal extreme pain disorder, and small fiber neuropathy. Loss of function mutations lead to congenital insensitivity to pain. We report the case of a 6-year-old girl with a SCN9A mutation who presented with both gain of function and loss of function phenotypes, including congenital corneal anesthesia.
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