autosomal dominant nocturnal frontal lobe epilepsy 1

Summary
Synonym
  • ENFL1
  • nocturnal frontal lobe epilepsy 1
Definition
An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13.
Super Class
autosomal dominant nocturnal frontal lobe epilepsy
Disease Ontology
DOID:0060682
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1137 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
11438 Chrna4 cholinergic receptor, nicotinic, alpha polypeptide 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
25590 Chrna4 cholinergic receptor nicotinic alpha 4 subunit
Displaying all 2 entries
Gene ID Gene Symbol Description Source
42919 nAChRalpha2 nicotinic Acetylcholine Receptor alpha2
42920 nAChRbeta2 nicotinic Acetylcholine Receptor beta2
Displaying all 3 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
172703 unc-29 Acetylcholine receptor subunit beta-type unc-29

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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: December 9, 2024