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Background: Epilepsy, as a chronic noncommunicable disease with recurrent seizures, may be a marker of deterioration or alteration in other underlying neurological diseases. This study aimed to investigate the relationship of epilepsy with brain function, other common brain disorders, and their underlying mechanisms., Methods: The study was based on clinical diagnostic and test data from 426,527 participants in the UK Biobank, of whom 3,251 were diagnosed with epilepsy at baseline. Multiple linear and Cox regression models were used to explore the association between epilepsy, brain function, and other brain disorders., Results: This study demonstrated consistent deleterious effects of epilepsy on cognitive and motor function and mental health. The risk of neurological diseases and psychiatric disorders was significantly elevated in the epilepsy population during the 17-year follow-up period, according to the longitudinal analysis. We also identified several brain regions associated with epilepsy, including the pallidum, hippocampus, and precentral regions. Mediation analyses revealed mediating effects of peripheral markers and proteins (e.g., GGT, HDL, ACE2, and GDF15), suggesting that liver function and lipid metabolism may be involved in the development of other brain disorders in individuals with epilepsy., Conclusions: Our study provides robust evidence of the association between epilepsy and poor brain health, underscoring the importance of early intervention for epilepsy., Competing Interests: Declarations. Ethics approval and consent to participate: The study was conducted following the Declaration of Helsinki. The UK Biobank has research tissue bank approval from the North West Multi-Center Research Ethics Committee (11/NW/0382). Written informed consent was obtained from all participants. The present study was approved by UK Biobank under application number 19542. Consent for publication: Not applicable. Competing interests: The authors declare that they have no competing interests., (© 2024. The Author(s).)

Next-generation sequencing (NGS) technology has led to great advances in understanding the causes of Mendelian and complex neurological diseases. Owing to the complexity of genetic diseases, the genetic factors contributing to many rare and common neurological diseases remain poorly understood. Selecting the correct genetic test based on cost-effectiveness, coverage area, and sequencing range can improve diagnosis, treatments, and prevention. Whole-exome sequencing and whole-genome sequencing are suitable methods for finding new mutations, and gene panels are suitable for exploring the roles of specific genes in neurogenetic diseases. Here, we provide an overview of the classifications, applications, advantages, and limitations of NGS in research on neurological diseases. We further provide examples of NGS-based explorations and insights of the genetic causes of neurogenetic diseases, including Charcot–Marie–Tooth disease, spinocerebellar ataxias, epilepsy, and multiple sclerosis. In addition, we focus on issues related to NGS-based analyses, including interpretations of variants of uncertain significance, de novo mutations, congenital genetic diseases with complex phenotypes, and single-molecule real-time approaches. [ABSTRACT FROM AUTHOR]