Dravet syndrome

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

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

No ligand related data available for Dravet syndrome

References

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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, Inoue Y. (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, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE. (2003) Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology, 61 (6): 765-9. [PMID:14504318]