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Clinical Features and Gene Mutation of Neonatal Seizures
1Pediatric Department, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
Journal of Clinical Medicine
|July 15, 2026
Summary
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.
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