Epilepsy, nocturnal frontal lobe, 1; ENFL1

Disease ID:316
Name:Epilepsy, nocturnal frontal lobe, 1; ENFL1
Associated with:1 target
Synonyms
Autosomal dominant nocturnal frontal lobe epilepsy
Database Links
OMIM: 600513
Orphanet: ORPHA98784

Targets

nicotinic acetylcholine receptor α4 subunit
References:  1-6
Mutations:  nicotinic acetylcholine receptor α4 subunit is associated with 4 mutation. Click here for details

Ligands

No ligand related data available for Epilepsy, nocturnal frontal lobe, 1; ENFL1

References

Show »

1. Hirose S, Iwata H, Akiyoshi H, Kobayashi K, Ito M, Wada K, Kaneko S, Mitsudome A. (1999) A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology, 53 (8): 1749-53. [PMID:10563623]

2. Leniger T, Kananura C, Hufnagel A, Bertrand S, Bertrand D, Steinlein OK. (2003) A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy. Epilepsia, 44 (7): 981-5. [PMID:12823585]

3. Phillips HA, Marini C, Scheffer IE, Sutherland GR, Mulley JC, Berkovic SF. (2000) A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann. Neurol., 48 (2): 264-7. [PMID:10939581]

4. Steinlein OK, Magnusson A, Stoodt J, Bertrand S, Weiland S, Berkovic SF, Nakken KO, Propping P, Bertrand D. (1997) An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum. Mol. Genet., 6 (6): 943-7. [PMID:9175743]

5. Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF. (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet., 11 (2): 201-3. [PMID:7550350]

6. Weiland S, Witzemann V, Villarroel A, Propping P, Steinlein O. (1996) An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Lett., 398 (1): 91-6. [PMID:8946959]