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

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...

Full description

Saved in:
Bibliographic Details
Published in:Annals of the Indian Academy of Neurology 2019-07, Vol.22 (3), p.311-315
Main Authors: Patil, Abhijit, Vinayan, K, Roy, Arun
Format: Article
Language:English
Subjects:
Age
Anticonvulsants
Cardiotoxicity
Case Report
Children
Convulsions & seizures
Dosage and administration
Drug dosages
Drug therapy
EKG
Electrocardiography
Encephalopathy
Epilepsy
Epileptic encephalopathy
Excitability
Genes
Health aspects
Infants
KCNT1
Lacosamide
Levetiracetam
Mutation
Neurons
NMR
Nuclear magnetic resonance
Oxcarbazepine
Potassium channels
Quinidine
Seizures
Sodium
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0972-2327
1998-3549
DOI:10.4103/aian.AIAN_229_18