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Epilepsy, nocturnal frontal lobe 4, ENFL4

Disease ID:315
Name:Epilepsy, nocturnal frontal lobe 4, ENFL4
Associated with:1 target
Synonyms
Autosomal dominant nocturnal frontal lobe epilepsy
Database Links
OMIM: 610353
Orphanet: ORPHA98784

Targets

nicotinic acetylcholine receptor α2 subunit
References:  1
Mutations:  nicotinic acetylcholine receptor α2 subunit is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Epilepsy, nocturnal frontal lobe 4, ENFL4

References

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1. Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D et al.. (2006) Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet, 79 (2): 342-50. [PMID:16826524]