Table of Contents

HK J Paediatr (New Series)
Vol 27. No. 2, 2022

HK J Paediatr (New Series) 2022;27:136-140

Case Report

Two Cases of KCNQ2 Encephalopathy

YS Yeung, SP Wu, HN Cheung, SC Chong


Abstract

KCNQ2 encephalopathy is increasingly recognised as one of the causes of early infantile epileptic encephalopathy (EIEE). We report two cases of KCNQ2 encephalopathy, presenting as neonatal-onset seizures refractory to multiple anti-epileptic medications. The diagnosis was confirmed by epilepsy EIEE gene panel, which analyses hundreds of epilepsy-related genes. The EIEE gene panel is a useful diagnostic tool in patients with early-onset intractable epilepsy.

Keyword : CHRNA4; Epilepsy; Epileptic encephalopathy; KCNQ2


 
 

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