Dravet syndrome: Scn1a-A1783V point mutation model (Mus musculus)
From WikiPathways
Description
Dravet syndrome is a rare form of epilepsy. Between 70% and 80% of patients carry sodium channel α1 subunit gene (SCN1A) loss of function mutations. Truncating mutations (early stop codon) account for about 40% and have a significant correlation with an earlier age of seizures onset. The mutations lead to haploinsufficiency of the voltage-gated sodium channel α subunit NaV1.1 in the of GABAergic inhibitory interneurons in the brain.
Mutations in other genes like KCNA1, CHD2, PCDH19 and STXBP1 can also lead to Dravet syndrome.
Quality Tags
Ontology Terms
Saving...Bibliography
View all... |
- Wierda KD, Toonen RF, de Wit H, Brussaard AB, Verhage M; ''Interdependence of PKC-dependent and PKC-independent pathways for presynaptic plasticity.''; Neuron, 2007 PubMed Europe PMC Scholia
- Bouza AA, Isom LL; ''''; , PubMed Europe PMC Scholia
- Wang C, Hoch EG, Pitt GS; ''Identification of novel interaction sites that determine specificity between fibroblast growth factor homologous factors and voltage-gated sodium channels.''; J Biol Chem, 2011 PubMed Europe PMC Scholia
- Gaudioso C, Carlier E, Youssouf F, Clare JJ, Debanne D, Alcaraz G; ''''; , PubMed Europe PMC Scholia
- Chen W, Sheng J, Guo J, Gao F, Zhao X, Dai J, Wang G, Li K; ''''; , PubMed Europe PMC Scholia
- Wada T, Penninger JM; ''''; , PubMed Europe PMC Scholia
- Chen C, Westenbroek RE, Xu X, Edwards CA, Sorenson DR, Chen Y, McEwen DP, O'Malley HA, Bharucha V, Meadows LS, Knudsen GA, Vilaythong A, Noebels JL, Saunders TL, Scheuer T, Shrager P, Catterall WA, Isom LL; ''''; , PubMed Europe PMC Scholia
- ''''; , PubMed Europe PMC Scholia
- Mossmann D, Park S, Hall MN; ''''; , PubMed Europe PMC Scholia
- Mei D, Cetica V, Marini C, Guerrini R; ''''; , PubMed Europe PMC Scholia
History
External references
DataNodes
| View all... |
Annotated Interactions
No annotated interactions
