Open AccessTwo South Indian children with KCNT1-related malignant migrating focal seizures of infancy – Clinical characteristics and outcome of targeted treatment with quinidine
Author(s) -
Abhijit Anil Patil,
Kollencheri Puthenveettil Vinayan,
Arun Grace Roy
Publication year - 2019
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/aian.aian_229_18
Subject(s) - quinidine , medicine , cardiotoxicity , antagonist , anesthesia , pharmacology , toxicity , receptor
KCNT1 gene encodes a sodium-gated potassium channel subunit that plays an important role in regulating excitability in neurons. Quinidine is a partial antagonist of this channel. We report the clinical characteristics of two south Indian children with KCNT1 -related epileptic encephalopathy. Both of them had very high seizure burden which were resistant to antiepileptic and dietary therapy. Pharmacological response to quinidine in these children is described. Case 1 had 30% reduction in seizure burden at 20 mg/kg/day and 80% reduction at 36 mg/kg/day; case 2 had 30% reduction at 20 mg/kg/day. Serial electrocardiography was used to monitor the cardiotoxicity. Serum quinidine levels were not measured due to nonavailability. A critical review on the current status of targeted treatment of KCNT1 -related epileptic encephalopathies with quinidine is attempted.