Abstract:SCN9A codes for the voltage-gated sodium channel Nav1.7, a protein expressed most prominently in sensing pain neurons. Bi-alleleic loss of function mutations in SCN9A results in a severe ‘channelopathy’ associated with insensitivity to acute pain and anosmia. In this report we describe the labour and post-partum outcomes of two sisters with this trait belonging to a non-consanguineous Caucasian family living locally. Both gave a history of life long insensitivity to pain, anosmia and multiple previous unrecogn… Show more
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