Dravet syndrome
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: | 290 | |
| Name: | Dravet syndrome | |
| Associated with: | 4 targets | |
| Synonyms |
| Epileptic encephalopathy, early infantile, 6; EIEE6 | Severe myoclonic epilepsy of infancy; SMEI |
| Database Links |
|
Disease Ontology:
DOID:0060171 OMIM: 607208 Orphanet: ORPHA33069 |
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.
✖| GABAA receptor γ2 subunit | |
| Role: | Dravet syndrome is a rare disorder characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life (Claes et al., 2001). Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development stagnates around the second year of life. Dravet syndrome is considered to be the most severe phenotype within the spectrum of GEFS+. Dravet syndrome is a malignant epileptic syndrome, while GEFS+ is usually benign (Ohmori et al., 2002). Dravet syndrome was first described by Dravet in 1978. The syndrome shows both generalized and localized seizure types and EEG paroxysms (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). |
| References: | 2,6-7 |
| Mutations: | GABAA receptor γ2 subunit is associated with 2 mutation. Click here for details  |
| Nav1.1 | |
| References: | 1,12 |
| Mutations: | Nav1.1 is associated with 64 mutation. Click here for details |
| Nav1.2 | |
| References: | 8 |
| Mutations: | Nav1.2 is associated with 1 mutation. Click here for details |
| Nav1.7 |
Ligands
GtoPdb Disease Summaries - Ligands
Click ligand name to view ligand summary page
- 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 Dravet syndrome
References
1. Catterall WA. (2014) Sodium channels, inherited epilepsy, and antiepileptic drugs. Annu Rev Pharmacol Toxicol, 54: 317-38. [PMID:24392695]
2. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. (2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet, 68 (6): 1327-32. [PMID:11359211]
3. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K et al.. (2003) Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain, 126 (Pt 3): 531-46. [PMID:12566275]
4. Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF et al.. (2002) Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet, 70 (2): 530-6. [PMID:11748509]
5. Hirose S. (2006) A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules. Epilepsy Res, 70 Suppl 1: S206-17. [PMID:16860540]
6. No authors listed. (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia, 30 (4): 389-99. [PMID:2502382]
7. Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. (2002) Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun, 295 (1): 17-23. [PMID:12083760]
8. Shi X, Yasumoto S, Nakagawa E, Fukasawa T, Uchiya S, Hirose S. (2009) Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. Brain Dev, 31 (10): 758-62. [PMID:19783390]
9. Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K. (2002) Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology, 58 (7): 1122-4. [PMID:11940708]
10. Thompson CH, Porter JC, Kahlig KM, Daniels MA, George Jr AL. (2012) Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. J Biol Chem, 287 (50): 42001-8. [PMID:23086956]
11. Veggiotti P, Cardinali S, Montalenti E, Gatti A, Lanzi G. (2001) Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families. Epileptic Disord, 3 (1): 29-32. [PMID:11313220]
12. Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM et al.. (2003) Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology, 61 (6): 765-9. [PMID:14504318]
