ArticleFrontiers in neurology
Genotype mutations and phenotypes of 30 cases with epilepsy related to fever sensitivity in children.
Article in Frontiers in neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: To explore the clinical features and molecular genetic characteristics of epilepsy related to fever sensitivity caused by various types of gene mutations, and to analyze the relationships of genotype and clinical phenotype with clinical treatment efficacy. Methods: This retrospective study was conducted on 30 cases of children with abnormal genetic testing related to febrile sensitivity epilepsy treated in Wuxi Children's Hospital between June 2016 and April 2023. All 61 children who met the inclusion criteria underwent whole exome sequencing (WES); clinical features were compared between the 30 gene-positive patients and the 31 gene-negative patients. Genetic testing results and clinical data of the 30 positive cases were summarized and the children were divided into "effective" and "ineffective" groups according to the efficacy of clinical treatment for comparisons. Results: Among the 30 gene-positive children, the onset of epilepsy occurred early, with 20 cases occurring within 1 year after birth, and 17 cases having developmental delay. Thirty cases of pathogenic genes related to epilepsy were detected with mutations in the Conclusion: Febrile sensitivity-related epilepsy in children is primarily caused by
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