ArticleFrontiers in neurology2023
Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients.
Article in Frontiers in neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 4 citations in OpenAlex.
- Association of compression pressure and SCN8A and SCN9A gene polymorphisms with the recurrence of balloon compression-treated trigeminal neuralgia.Neurosurgical review · 2025Article
- Screening of metabolic markers in pediatric epilepsy disorders.Journal of translational medicine · 2025Article
- SCN2A gene mutations with epilepsy: single center experience.Italian journal of pediatrics · 2025Article
- Expanding the Genetic and Clinical Spectrum ofInternational journal of molecular sciences · 2025Article
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Authors and funding
11 authors at 3 institutions in 3 countries.
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Abstract
Objective: This study aimed to examine the clinical and gene-mutation characteristics of pediatric patients with sodium channel gene mutation-related childhood epilepsy and to provide a basis for precision treatment and genetic counseling. Methods: The clinical data from 94 patients with sodium channel gene mutation-related childhood epilepsy who were treated at Hunan Children's Hospital from August 2012 to December 2022 were retrospectively evaluated, and the clinical characteristics, gene variants, treatment, and follow-up status were analyzed and summarized. Results: Our 94 pediatric patients with sodium channel gene variant-related childhood epilepsy comprised 37 girls and 57 boys. The age of disease onset ranged from 1 day to 3 years. We observed seven different sodium channel gene variants, and 55, 14, 9, 6, 6, 2, and 2 patients had Conclusion: Sodium channel gene variants involve different epileptic syndromes, and the treatment responses also vary. We herein reported 42 novel variants, and we are also the first ever to report two patients with
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