Seizures, benign familial neonatal, 2; BFNS2
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: | 138 | |
| Name: | Seizures, benign familial neonatal, 2; BFNS2 | |
| Associated with: | 1 target | |
| Synonyms |
| Benign familial neonatal seizures | Benign neonatal seizures |
| Database Links |
|
Disease Ontology:
DOID:14264 OMIM: 121201 Orphanet: ORPHA1949 |
Targets
GtoPdb Disease Summaries - Targets
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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.
✖| Kv7.3 | |
| Role: | Also known as epilepsy, benign neonatal type 2 (EBN2). BFNC2 is an autosomal dominant form of epilepsy in the newborn that clears spontaneously after a few weeks and is followed by normal psychomotor development. Defects in KCNQ3 are the cause of benign familial neonatal convulsions type 2 (BFNC2). Late occurrence of seizures and intellectual deficiency may also be present in some families carrying KCNQ3 mutations. An association between a very rare single nucleotide polymorphism located in the C-terminal region of Q3 with autism spectrum disorders. |
| Drugs: | Retigabine, flupirtine |
| Side effects: | For retigabine: chills, pain, symptomatic hypotension, dizziness, nausea, myalgia, sweating, vomiting, asthenia and somnolence. For flupirtine: drowsiness, dizziness, dry mouth, pruritis and nausea. |
| Therapeutic use: | Retigabine and flupirtine have shown antiepileptic activity in humans and in a broad range of seizure models in rodents. Retigabine and flupirtine may possess actions unrelated to KCNQ opening. It is unclear, therefore, if the efficacy of retigabine and flupirtine in animals models of epilepsy and pain and in human studies is entirely due to KCNQ activation. |
| Comments: | Receptor blockers enhance learning and memory in animal models. KCNQ openers also have potential for the treatment of other CNS disorders characterized by neuronal hyperexcitability, such as migraine, and neuropathic pain. |
| References: | 1-4,6-7 |
| Mutations: | Kv7.3 is associated with 2 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
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- 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 Seizures, benign familial neonatal, 2; BFNS2
References
1. Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M. (1998) A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet, 18 (1): 53-5. [PMID:9425900]
2. Coghlan MJ, Carroll WA, Gopalakrishnan M. (2001) Recent developments in the biology and medicinal chemistry of potassium channel modulators: update from a decade of progress. J Med Chem, 44 (11): 1627-53. [PMID:11356099]
3. Gilling M, Rasmussen HB, Calloe K, Sequeira AF, Baretto M, Oliveira G, Almeida J, Lauritsen MB, Ullmann R, Boonen SE et al.. (2013) Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders. Front Genet, 4: 54. [PMID:23596459]
4. Schroeder BC, Kubisch C, Stein V, Jentsch TJ. (1998) Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. Nature, 396 (6712): 687-90. [PMID:9872318]
5. Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, Anderson VE, Sanguinetti MC, Leppert MF. (2003) KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain, 126 (Pt 12): 2726-37. [PMID:14534157]
6. Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N et al.. (2014) Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. Hum Mutat, 35 (3): 356-67. [PMID:24375629]
7. Wua YJ, Dworetzky SI. (2005) Recent developments on KCNQ potassium channel openers. Curr Med Chem, 12 (4): 453-60. [PMID:15720253]
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