Hong Kong Journal of Paediatrics [HK J Paediatr (New Series) 2022;27:136-140]

Department of Paediatrics, Queen Elizabeth Hospital, 30 Gascoigne Road, Kowloon, Hong Kong SAR, China
YS Yeung(楊潤生) MBBS, MRCPCH, DCH(International)
SP Wu(胡信平) MBBS, FHKAM(Paediatrics), FHKCPaed

Department of Pathology, Queen Elizabeth Hospital, 30 Gascoigne Road, Kowloon, Hong Kong SAR, China
HN Cheung(張海寧) MBChB, MRCP(UK)

Department of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, 30-32 Ngan Shing Street, Shatin, N.T., Hong Kong SAR, China; Joint CUHK-BCM Centre of Medical Genetics, The Chinese University of Hong Kong, Hong Kong SAR, China
SC Chong(莊淑貞) MBBS, Msc(Medical Genetics), FHKAM(Paediatrics)

Correspondence to: Dr YS Yeung

Email: yys970@ha.org.hk

Received January 12, 2020

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.