Top ▲

Epilepsy, nocturnal frontal lobe, 3; ENFL3

Disease ID:317
Name:Epilepsy, nocturnal frontal lobe, 3; ENFL3
Associated with:1 target
Synonyms
Autosomal dominant nocturnal frontal lobe epilepsy
Database Links
OMIM: 605375
Orphanet: ORPHA98784

Targets

nicotinic acetylcholine receptor β2 subunit
References:  1-4,6
Mutations:  nicotinic acetylcholine receptor β2 subunit is associated with 5 mutation. Click here for details

Ligands

No ligand related data available for Epilepsy, nocturnal frontal lobe, 3; ENFL3

References

Show »

1. Bertrand D, Elmslie F, Hughes E, Trounce J, Sander T, Bertrand S, Steinlein OK. (2005) The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol. Dis., 20 (3): 799-804. [PMID:15964197]

2. De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G. (2000) The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat. Genet., 26 (3): 275-6. [PMID:11062464]

3. Duga S, Asselta R, Bonati MT, Malcovati M, Dalprà L, Oldani A, Zucconi M, Ferini-Strambi L, Tenchini ML. (2002) Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia, 43 (4): 362-4. [PMID:11952766]

4. Hoda JC, Gu W, Friedli M, Phillips HA, Bertrand S, Antonarakis SE, Goudie D, Roberts R, Scheffer IE, Marini C et al.. (2008) Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore. Mol. Pharmacol., 74 (2): 379-91. [PMID:18456869]

5. Philips A, Lesage S, Gingras R, Maira MH, Gauthier Y, Hugo P, Drouin J. (1997) Novel dimeric Nur77 signaling mechanism in endocrine and lymphoid cells. Mol. Cell. Biol., 17 (10): 5946-51. [PMID:9315652]

6. Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE, Scheffer IE, Sutherland GR, Berkovic SF, Bertrand D et al.. (2001) CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am. J. Hum. Genet., 68 (1): 225-31. [PMID:11104662]