autosomal dominant nocturnal frontal lobe epilepsy

Summary
Synonym
  • ENFL
Definition
A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.
Super Class
autosomal dominant disease frontal lobe epilepsy
Disease Ontology
DOID:0060681
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
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 2 entries
Gene ID Gene Symbol Description Source
42918 nAChRalpha1 nicotinic Acetylcholine Receptor alpha1
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: December 9, 2024