Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2019  |  Volume : 22  |  Issue : 3  |  Page : 311-315

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


Department of Neurology, Division of Paediatric Neurology, Amrita Institute of Medical Sciences, Kochi, Kerala, India

Correspondence Address:
Dr. K P Vinayan
Department of Neurology, Division of Paediatric Neurology, Amrita Institute of Medical Sciences, Kochi - 682 041, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/aian.AIAN_229_18

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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.


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