Key result
KCNT1 exon 15 mutations link to early-onset epileptic encephalopathy featuring focal seizures and developmental delay.
Why the study?
KCNT1 is associated with a spectrum of epilepsies and neurological disorders, but overview of the phenotype and genotype of KCNT1-related epilepsies in infancy was needed.
Observational (n=6)
No
This case series characterizes the clinical and genetic features of KCNT1-related epilepsy in Bangladeshi infants, highlighting early-onset focal seizures and global developmental delay.
Variable KCNT1 phenotypes in infancy warrant cautious interpretation; leaves open genotype-phenotype correlations for prospective validation.
Background and Purpose: KCNT1, a gene which encodes sodium gated potassium channels, is associated with a spectrum of epilepsies and neurological disorders. This study has been done to overview the phenotype and genotype of KCNT1 related epilepsies in infancy.Method: This observational, cross-sectional study was conducted in the Department of Pediatric Neurology, Bangladesh Medical University. Detailed history taking and clinical examinations were done. Electroencephalogram and magnetic resonance imaging of the brain were done in each patient. The classification and description of seizures and epilepsy was done according to the international league against epilepsy guideline. Genetic test was done by targeted next-generation sequencing.Result: This study included six patients with developmental epileptic encephalopathy with KCNT1 gene mutation. The children had various types of seizures, mostly focal seizure, focal with bilateral tonic-clonic seizure, epileptic spasm and status epilepticus. Most patients had global developmental delay with normal birth history. In all patients, whole exome sequencing was done and KCNT1 mutation had been found.Conclusions: This study describes the genotype and phenotype of KCNT1 related epilepsy in infancy.
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K et al. (2026) conducted an observational in KCNT1-related epilepsy (n=6). KCNT1 mutation was evaluated on Genotypic and phenotypic characteristics. Six infants with KCNT1 mutations exhibited early-onset developmental epileptic encephalopathy characterized by focal seizures, global developmental delay, and pathogenic variants in exon 15.
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