Quinidine in the treatment of KCNT1-positive epilepsies.

Journal Article (Journal Article)

We report 2 patients with drug-resistant epilepsy caused by KCNT1 mutations who were treated with quinidine. Both mutations manifested gain of function in vitro, showing increased current that was reduced by quinidine. One, who had epilepsy of infancy with migrating focal seizures, had 80% reduction in seizure frequency as recorded in seizure diaries, and partially validated by objective seizure evaluation on EEG. The other, who had a novel phenotype, with severe nocturnal focal and secondary generalized seizures starting in early childhood with developmental regression, did not improve. Although quinidine represents an encouraging opportunity for therapeutic benefits, our experience suggests caution in its application and supports the need to identify more targeted drugs for KCNT1 epilepsies.

Full Text

Duke Authors

Cited Authors

  • Mikati, MA; Jiang, Y-H; Carboni, M; Shashi, V; Petrovski, S; Spillmann, R; Milligan, CJ; Li, M; Grefe, A; McConkie, A; Berkovic, S; Scheffer, I; Mullen, S; Bonner, M; Petrou, S; Goldstein, D

Published Date

  • December 2015

Published In

Volume / Issue

  • 78 / 6

Start / End Page

  • 995 - 999

PubMed ID

  • 26369628

Pubmed Central ID

  • PMC4811613

Electronic International Standard Serial Number (EISSN)

  • 1531-8249

Digital Object Identifier (DOI)

  • 10.1002/ana.24520


  • eng

Conference Location

  • United States