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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
developmental and epileptic encephalopathy
Summary
- Definition
- An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.
- Super Class
- electroclinical syndrome
External Links
- Disease Ontology
- DOID:0112202
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1759 | DNM1 | dynamin 1 | |
| 1785 | DNM2 | dynamin 2 | |
| 3785 | KCNQ2 | potassium voltage-gated channel subfamily Q member 2 | |
| 3786 | KCNQ3 | potassium voltage-gated channel subfamily Q member 3 | |
| 6812 | STXBP1 | syntaxin binding protein 1 | |
| 6813 | STXBP2 | syntaxin binding protein 2 | |
| 9681 | DEPDC5 | DEP domain containing 5, GATOR1 subcomplex subunit | |
| 9900 | SV2A | synaptic vesicle glycoprotein 2A | |
| 27133 | KCNH5 | potassium voltage-gated channel subfamily H member 5 | |
| 56479 | KCNQ5 | potassium voltage-gated channel subfamily Q member 5 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 13429 | Dnm1 | dynamin 1 | |
| 13430 | Dnm2 | dynamin 2 | |
| 14681 | Gnao1 | guanine nucleotide binding protein, alpha O | |
| 16536 | Kcnq2 | potassium voltage-gated channel, subfamily Q, member 2 | |
| 20910 | Stxbp1 | syntaxin binding protein 1 | |
| 22348 | Slc32a1 | solute carrier family 32 (GABA vesicular transporter), member 1 | |
| 64051 | Sv2a | synaptic vesicle glycoprotein 2a | |
| 103967 | Dnm3 | dynamin 3 | |
| 110862 | Kcnq3 | potassium voltage-gated channel, subfamily Q, member 3 | |
| 238271 | Kcnh5 | potassium voltage-gated channel, subfamily H (eag-related), member 5 |
