癫痫
口译(哲学)
心理学
神经科学
精神科
认知科学
医学
计算机科学
程序设计语言
作者
Alfiya Fasaludeen,Amy McTague,Manna Jose,Moinak Banerjee,Soumya Sundaram,U K Madhusoodanan,Ashalatha Radhakrishnan,R. G. Menon
标识
DOI:10.1016/j.eplepsyres.2024.107341
摘要
Genetic advances over the past decade have enhanced our understanding of the genetic landscape of childhood epilepsy. However major challenges for clinicians has been the rationale and systematic approach towards interpretation of the clinical significance of variant(s) detected in their patients. As the clinical paradigm evolves from gene panels to whole exome or whole genome testing, the number of patients tested and variants identified per patient will only increase. Each step in the process of variant interpretation has limitations and there is no single criterion which enables the clinician to draw reliable conclusions on a causal relationship between the variant and disease. Although many automated online analysis software tools are available, these carry a risk of misinterpretation. This guideline provides a pragmatic, real-world approach to variant interpretation for the child neurologist. The focus will be on ascertaining aspects such as variant frequency, subtype, inheritance pattern, structural and functional consequence with regard to genotype-phenotype correlations, while refraining from mere interpretation of the classification provided in a genetic test report. It will not replace the expert advice of colleagues in clinical genetics, however as genomic investigations become a first-line test for epilepsy, it is vital that neurologists and epileptologists are equipped to navigate this landscape.
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