EpilepsyGene

Statistics-----Data content

The genes or phenotypes listed here did not include ones from CNVs.

Table 1 Data content and statistics of genetic data in EpilepsyGene

Data type Data count

Mutations SNVs 2,658 (3,931)

InDels 694 (3,931)

CNVs 579 (3,931)

Genes 499

Phenotypes 331

High confidence genes 154

GOs 145

Pathways Pathway commons 10

KEGG pathways 9

WIKI pathways 1

PPIs 7

Publications 818

Table 2 Top 5 genes in EpilepsyGene

Gene symbol Number of mutations

SCN1A 907

KCNQ2 182

CDKL5 166

PCDH19 158

PRRT2 152

Table 3 Top 5 phenotypes in EpilepsyGene

Phenotype Number of mutations

SMEI 716

Lafora's disease 229

Pyridoxine-dependent epilepsy 154

BFIE 99