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Standards Ontologies Notations
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
Displaying entries 1 - 10 of 11 in total
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
Displaying entries 1 - 10 of 12 in total
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
Displaying all 3 entries
Gene ID Gene Symbol Description Source
117559 Sv2a synaptic vesicle glycoprotein 2a
140694 Dnm1 dynamin 1
171146 Kcnh5 potassium voltage-gated channel subfamily H member 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
32428 eag ether a go-go
Displaying 1 entry
Gene ID Gene Symbol Description Source
176431 unc-47 Vesicular GABA transporter
Displaying all 2 entries
Gene ID Gene Symbol Description Source
853603 IML1 GTPase-activating protein IML1
853870 VPS1 dynamin-like GTPase VPS1
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024