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Clinical Features and Gene Mutation of Neonatal Seizures

Liu Guo1, Anran Du2, Lei An2

  • 1Pediatric Department, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.

Journal of Clinical Medicine
|July 15, 2026
PubMed

Insights

Hypoxic-ischemic encephalopathy is a leading cause of early neonatal seizures. Genetic testing identified a novel KCNQ2 mutation, expanding understanding of seizure causes and emphasizing the importance of early diagnosis.

Area of Science:

  • Neonatal Neurology
  • Clinical Genetics

Background:

  • Early-stage neonatal seizures with unknown causes lead to poor seizure control and long-term prognosis.
  • Timely clarification of seizure etiology and targeted treatment are crucial for improved outcomes.

Purpose of the Study:

  • To characterize clinical features and genetic mutations in neonatal seizures, especially those of unknown etiology.
  • To investigate the role of KCNQ2 gene mutations in neonatal seizures.

Main Methods:

  • Retrospective analysis of clinical data from 56 neonates with seizures.
  • Family-based whole-exome sequencing in six cases with undetermined etiology.
  • Classification of KCNQ2 variants using ACMG guidelines and statistical comparisons.

Main Results:

  • Hypoxic-ischemic encephalopathy (HIE) was the most common cause (23.21%), with seizures often occurring within the first three days of life.
  • Subtle seizures were the predominant type (46.42%), and abnormal EEG findings were noted in 58.82%.
  • A novel, likely pathogenic heterozygous KCNQ2 mutation (c.766G>T, p.Gly256Trp) was identified.

Conclusions:

  • HIE is a primary cause of early-onset neonatal seizures.
  • The novel KCNQ2 mutation broadens the known genetic spectrum of neonatal seizures.
  • Genetic testing is valuable for diagnosing neonatal seizures and guiding treatment.

Keywords:
KCNQ2 gene mutationneonatal hypoxic-ischemic encephalopathyneonatal seizuressubtle seizureswhole-exome sequencing

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