autosomal dominant nocturnal frontal lobe epilepsy 4

Summary
Synonym
  • ENFL4
  • nocturnal frontal lobe epilepsy 4
Definition
An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.
Super Class
autosomal dominant nocturnal frontal lobe epilepsy
External Links
Disease Ontology
DOID:0060685
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1135 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
110902 Chrna2 cholinergic receptor nicotinic alpha 2 subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
170945 Chrna2 cholinergic receptor nicotinic alpha 2 subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
42920 nAChRbeta2 nicotinic Acetylcholine Receptor beta2
Displaying 1 entry
Gene ID Gene Symbol Description Source
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