autosomal dominant nocturnal frontal lobe epilepsy 3

Summary
Synonym
  • ENFL3
  • nocturnal frontal lobe epilepsy 3
Definition
An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21.
Super Class
autosomal dominant nocturnal frontal lobe epilepsy
External Links
Disease Ontology
DOID:0060684
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1141 CHRNB2 cholinergic receptor nicotinic beta 2 subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
11444 Chrnb2 cholinergic receptor nicotinic beta 2 subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
54239 Chrnb2 cholinergic receptor nicotinic beta 2 subunit
Displaying all 4 entries
Gene ID Gene Symbol Description Source
38545 nAChRbeta1 nicotinic Acetylcholine Receptor beta1
42918 nAChRalpha1 nicotinic Acetylcholine Receptor alpha1
42919 nAChRalpha2 nicotinic Acetylcholine Receptor alpha2
42920 nAChRbeta2 nicotinic Acetylcholine Receptor beta2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
172105 unc-38 Acetylcholine receptor subunit alpha-type unc-38
172150 unc-63 Acetylcholine receptor subunit alpha-type unc-63

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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