Table 3.
Disease genes identified in epileptic encephalopathies (30 genes).
| Gene symbol | Gene Name and Description | Diseases |
|---|---|---|
| ARHGEF9 | Cdc42 guanine nucleotide exchange factor (GEF) 9 | Early infantile epileptic encephalopathy |
| ARX | Aristaless related homeobox | Early infantile epileptic encephalopathy |
| CDKL5 | Cyclin-dependent kinase-like 5 | Early infantile epileptic encephalopathy |
| CNTNAP2 | Contactin associated protein-like 2 | Pitt Hopkins syndrome |
| FOXG1 | Forkhead box G1 | Rett syndrome |
| GABRG2 | Gamma-aminobutyric acid (GABA) A receptor, gamma 2 | Early infantile epileptic encephalopathy |
| GRIN2A | Glutamate receptor, ionotropic, N-methyl D-aspartate 2A | Early infantile epileptic encephalopathy |
| GRIN2B | Glutamate receptor, ionotropic, N-methyl D-aspartate 2B | Early infantile epileptic encephalopathy |
| MAPK10 | Mitogen-activated protein kinase 10 | Lennox Gastaut syndrome |
| MECP2 | Methyl CpG binding protein 2 | Rett syndrome |
| NRXN1 | Neurexin 1 | Pitt Hopkins Syndrome |
| PCDH19 | Protocadherin 19 | Early infantile epileptic encephalopathy |
| PNKP | Polynucleotide kinase 3'-phosphatase | Early infantile epileptic encephalopathy |
| RNASEH2A | Ribonuclease H2, subunit A | Aicardi-Goutieres syndrome |
| RNASEH2B | Ribonuclease H2, subunit B | Aicardi-Goutieres syndrome |
| RNASEH2C | Ribonuclease H2, subunit C | Aicardi-Goutieres syndrome |
| SAMHD1 | SAM domain and HD domain 1 | Aicardi-Goutieres syndrome |
| SCN1A | Sodium channel, voltage-gated, type I, alpha subunit | Early infantile epileptic encephalopathy |
| SCN1B | Sodium channel, voltage-gated, type I, beta subunit | Early Infantile epileptic encephalopathy |
| SCN2A | Sodium channel, voltage-gated, type II, alpha subunit | Early infantile epileptic Encephalopathy |
| SCN9A | Sodium channel, voltage-gated, type IX, alpha subunit | Early infantile epileptic encephalopathy |
| SLC2A1 | Solute carrier family 2 (facilitated glucose transporter), member 1 | GLUT1 deficiency syndrome |
| SLC25A22 | Solute carrier family 25 (mitochondrial carrier: glutamate), member 22 | Early infantile epileptic encephalopathy |
| SLC9A6 | Solute carrier family 9 (sodium/hydrogen exchanger), member 6 | Angelman syndrome |
| SPTAN1 | Spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) | Early infantile epileptic encephalopathy |
| STXBP1 | Syntaxin binding protein 1 | Early infantile epileptic encephalopathy |
| TCF4 | Transcription factor 4 | Pitt Hopkins syndrome |
| TREX1 | Three prime repair exonuclease 1 | Aicardi-Goutieres syndrome |
| UBE3A | Ubiquitin protein ligase E3A | Angelman syndrome |
| ZEB2 | Zinc finger E-box binding homeobox 2 | Mowat-Wilson syndrome |