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).
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