Synonyms:
formerly familial rectal pain syndrome
Diagnosis:
A type of channelopathy
Genetics:
Autosomal dominant
SCN9A gene. Protein= Nav1.7 voltage gated sodium channel alpha subunit
Clinical features:
Begins in infancy
Autonomic: syncope, bradycardia, skin colour changes (flushing, or harlequin),
Tonic nonepileptic seizures
Paroxysmal pain: rectal, periorbital or jaw
Treatment:
Carbamazepine CBZ P.O.