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Ann Neurol. 2015 Dec;78(6):995-9. doi: 10.1002/ana.24520. Epub 2015 Nov 18.

Quinidine in the treatment of KCNT1-positive epilepsies.

Author information

1
Division of Pediatric Neurology, Department of Pediatrics and Department of Neurobiology, Duke University School of Medicine, Durham, NC.
2
Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
3
Division of Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
4
Center for Human Genome Variation, Duke University School of Medicine, Durham, NC.
5
Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria, Australia.
6
Department of Neurology, Wake Forest University, Winston-Salem, NC.
7
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia.
8
Department of Psychiatry and Behavioral Sciences, Duke University School of Medicine, Durham, NC.

Abstract

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.

PMID:
26369628
PMCID:
PMC4811613
DOI:
10.1002/ana.24520
[Indexed for MEDLINE]
Free PMC Article

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