Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

We report a child with CCHS who was found to have a novel heterozygous missense variant in exon 1; c.95A> T. Improvement in his apneic episodes was observed following treatment with carbamazepine.Citation:Schirwani S, Pysden K, Chetcuti P, Blyth M. Carbamazepine improves apneic episodes in congenital central hypoventilation syndrome (CCHS) with a novelPHOX2B exon 1 missense mutation.J Clin Sleep Med. 2017;13(11):1359–1362.
Source: Journal of Clinical Sleep Medicine : JCSM - Category: Sleep Medicine Source Type: research