Epilepsy, nocturnal frontal lobe, 1; ENFL1
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| 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
GtoPdb Disease Summaries - Targets
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| nicotinic acetylcholine receptor α4 subunit | |
| References: | 1-6 |
| Mutations: | nicotinic acetylcholine receptor α4 subunit is associated with 4 mutation. Click here for details  |
Ligands
GtoPdb Disease Summaries - Ligands
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- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Epilepsy, nocturnal frontal lobe, 1; ENFL1
References
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]
