Key result
Whole exome gene detection identifies a novel KCNQ2 mutation in a newborn with West syndrome.
Why the study?
Early-onset epileptic encephalopathy has complex causes and early identification with etiological treatment is critical, with KCNQ2 mutations reported as a cause.
Case Report (n=1)
Identification of a novel KCNQ2 mutation (p.W218C) expands the genetic spectrum of early-onset epileptic encephalopathy and highlights the utility of whole exome sequencing in neonates.
Answers are grounded in this paper and cite their sources.
May support KCNQ2 screening in early EOEE; leaves open functional validation before therapy guidance.
Early-onset epileptic encephalopathy (EOEE) is mainly characterized by early refractory epileptic seizures in infants with progressive brain dysfunction, accompanied by complex causes (such as perinatal brain injury, structural brain malformations and genetic metabolic diseases). Early identification and etiological treatment are critical. It has been reported that mutations in Potassium Voltage-Gated Channel Subfamily Q Member 2 ( KCNQ2 ) can result in EOEE. This study analyzed the genetic defects and clinical phenotypes of a newborn with early epileptic encephalopathy. Whole exome gene detection identified a novel heterozygous point mutation p. W218C in KCNQ2. The pathogenic variant was located in the protein's S4S5 connection region and was identified as a harmful mutation by silico tools. The child's clinical phenotype finally manifested as West syndrome during the follow-up. The mentioned variation may lead to severe clinical manifestations and poor neurological prognosis. Whole exome gene detection provides clinicians with more information on neonatal epileptic encephalopathy.
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Ju-hua et al. (2025) conducted a case report in Early-onset epileptic encephalopathy (n=1). KCNQ2 p.W218C mutation was evaluated on Genetic defects and clinical phenotypes. Whole exome gene detection identified a novel heterozygous point mutation p.W218C in KCNQ2 in a newborn whose clinical phenotype manifested as West syndrome.
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