A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature.

22 variants have been reported in the HINT1 gene, and we identified a novel c.356G > T (p.R119L) variant. Our study expands the genetic spectrum of ARAN-NM. Moreover, large clinical trials are required to further demonstrate the role of carbamazepine in ARAN-NM.