Data-driven historical characterization of epilepsy-associated genes

Area of Science:

• Genetics
• Neurology
• Bioinformatics

Background:

• Epilepsy genetics is complex and heterogeneous.
• Information on epilepsy-associated genes is fragmented across scientific literature.
• A comprehensive overview of epilepsy genes is needed.

Purpose of the Study:

• To computationally review and consolidate epilepsy-associated genes from scientific literature.
• To create an updated, curated list of genes linked to epilepsy.
• To classify identified genes and analyze trends in gene discovery.

Main Methods:

• Systematic literature search of PubMed for epilepsy-associated genes.
• Computational analysis and data curation.
• Classification of genes into Tier 1 (143 genes) and Tier 2 (738 genes).

Main Results:

• Identified a total of 738 epilepsy-associated genes.
• Most gene discoveries occurred between 2010-2019.
• Ion channels constitute the largest class of epilepsy genes.
• 28 genes showed heterogeneous variant effects.

Conclusions:

• This study provides a comprehensive, curated list of epilepsy-associated genes.
• The findings reflect the current genetic landscape of epilepsy.
• The identified gene lists and annotations aid in understanding epilepsy genetics and variant interpretation.