From Asymptomatic Carrier to Severe Epileptic Encephalopathy: First Albanian Pediatric Case of Early-Onset KCNT1-Related Epilepsy

CASE REPORT
Aferdita Tako, Rovena Aliaj, Elizana Petrela, Aida Bushati, Armand Shehu, Xhentila Doka, Sindi Dizdari, Paskal Cullufi

 
For citation: Tako A, Aliaj R, Petrela E, Bushati A, Shehu A, Doka X, Dizdari S, Cullufi P. From Asymptomatic Carrier to Severe Epileptic Encephalopathy: First Albanian Pediatric Case of Early-Onset KCNT1-Related Epilepsy. International Journal of Biomedicine. 2026;16(2):274-277. doi:10.21103/Article16(2)_CR3
 
Originally published June 5, 2026

Abstract: 

We report a pediatric case of genetically confirmed KCNT1-related epilepsy presenting with early-onset nocturnal frontal lobe seizures, multiple seizure types, and progressive psychomotor regression. Seizures were refractory to multiple anti-seizure medications. Trio exome sequencing identified a heterozygous KCNT1 c.2882G>A (p.Arg961His) variant inherited from an asymptomatic father, consistent with autosomal dominant epilepsy with incomplete penetrance. This case highlights the phenotypic variability of KCNT1-related disorders and underscores the diagnostic, therapeutic, and genetic counseling challenges in early-onset developmental and epileptic encephalopathies.

Keywords: 
epileptic encephalopathy • pediatrics • KCNT1 • gene mutation
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Received January 25, 2026.
Accepted March 9, 2026.
© 2026 The Author(s). International Journal of Biomedicine is published by IMRDC.
This is an open access article under the CC BY-NC-ND 4.0 license.