Common genetic epilepsies, pathogenicity of genes/variants, and genetic dependence

The remarks in the letter[1] reveal the authors' deep insight into current challenges in genetic studies. They refer to three critical questions: how to identify the causative genes of common diseases like genetic generalized epilepsy (GGE); how to determine gene-disease associations, especially for some genes with questionable epileptogenic effects such as EFHC1 and CACNA1H; and how to evaluate the pathogenicity of variants in a given gene and their clinical implication, as in the case of variants of SLC2A1 (encoding GLUT1).

Source: Seizure: European Journal of Epilepsy - May 10, 2023 Category: Neurology Authors: Na He, Bin Li, Zhi-Jian Lin, Peng Zhou, Tao Su, Wei-Ping Liao Source Type: research