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Seizures, benign familial infantile, 3; BFIS3

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.

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Disease ID:140
Name:Seizures, benign familial infantile, 3; BFIS3
Associated with:1 target
Synonyms
Benign familial infantile epilepsy | Benign familial neonatal-infantile seizures
Database Links
OMIM: 607745
Orphanet: ORPHA306, ORPHA140927

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.

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Key to terms and symbols
Nav1.2
Role:  Mutations in Nav1.2 affect the initiation and conduction of excess action potentials.
Drugs:  Anti-epileptic drugs including phenytoin, lamotrigine and clonazepam.
References:  1,3,6
Mutations:  Nav1.2 is associated with 10 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.

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No ligand related data available for Seizures, benign familial infantile, 3; BFIS3

References

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1. Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE. (2004) Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol, 55 (4): 550-7. [PMID:15048894]

2. Herlenius E, Heron SE, Grinton BE, Keay D, Scheffer IE, Mulley JC, Berkovic SF. (2007) SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia, 48 (6): 1138-42. [PMID:17386050]

3. Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni MH, Guiot MC et al.. (2002) Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet, 360 (9336): 851-2. [PMID:12243921]

4. Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D et al.. (2010) Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain, 133 (Pt 5): 1403-14. [PMID:20371507]

5. Striano P, Bordo L, Lispi ML, Specchio N, Minetti C, Vigevano F, Zara F. (2006) A novel SCN2A mutation in family with benign familial infantile seizures. Epilepsia, 47 (1): 218-20. [PMID:16417554]

6. Xu R, Thomas EA, Jenkins M, Gazina EV, Chiu C, Heron SE, Mulley JC, Scheffer IE, Berkovic SF, Petrou S. (2007) A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel. Mol Cell Neurosci, 35 (2): 292-301. [PMID:17467289]