Two South Indian children with KCNT1-related malignant migrating focal seizures of infancy – Clinical characteristics and outcome of targeted treatment with quinidine

• Published in: Annals of Indian Academy of Neurology
• Main Authors: Abhijit Anil Patil, K P Vinayan, Arun Grace Roy
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2019-01-01
• Subjects: Epileptic encephalopathy; KCNT1; quinidine
• Online Access: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2019;volume=22;issue=3;spage=311;epage=315;aulast=Patil
• ISSN: 0972-2327; 1998-3549

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.