Skip to main content
. 2021 Jan 13;11:952. doi: 10.1038/s41598-020-78654-y

Table 1.

Summary of epilepsy- and autism-associated genes used in the current study. Gene clusters from the original epilepsy and autism gene lists were separated into individual genes and gene symbols were standardized; the counts shown were taken after this step.

Epilepsy subgroup Number of genes Classification by Wang et al. (2017)10
Epilepsy 1 84 “Epilepsy genes, i.e., genes that only cause epilepsies or syndromes with epilepsy as the core symptom”
Epilepsy2 73 “Neurodevelopment-associated genes, i.e., genes associated with gross brain developmental malformations and epilepsies”
Epilepsy 3 529 “Epilepsy-related genes, i.e., genes associated with gross physical, or other systemic abnormalities and accompanied by epilepsy or seizures”
Epilepsy 4 314 “Potential epilepsy-associated genes, i.e., genes that require further verification”
Autism subgroup Number of genes Classification by SFARI (accessed February 21, 2020)
Autism 1 144 Genes in this category are all found on the SPARK gene list. Each of these genes has been clearly implicated in ASD—typically by the presence of at least three de novo likely-gene-disrupting mutations being reported in the literature—and such mutations identified in the sequencing of the SPARK cohort are typically returned to the participants. Some of these gene meet the most rigorous threshold of genome-wide significance; all at least meet a threshold false discovery rate of < 0.1
Autism 2 219

Genes with two reported de novo likely-gene-disrupting mutations

A gene uniquely implicated by a genome-wide association study, either reaching genome-wide significance or, if not, consistently replicated and accompanied by evidence that the risk variant has a functional effect

Autism 3 472

Genes with a single reported de novo likely-gene-disrupting mutation

Evidence from a significant but unreplicated association study, or a series of rare inherited mutations for which there is not a rigorous statistical comparison with controls

Autism S 119 The syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as “#S” (e.g., 2S, 3S). If there is no such independent evidence, the gene will be listed simply as “S”