From WikiPathways
ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none influences gene expression by chromatin modelling mTORC2 NMDA receptor subunits Nav1.1 Sodium channel GABAergic inhibitory interneuron Translocation Nucleus Glial cell α subunit binds only two different β subunits, either a β1 or β3 and a β2 or β4. Glycolysis and gluconeogenesis MCT1 Pp1r1b Epb41l3 Eaat2 Pyrimidine metabolism Cacnb4 Epb41l1 Cacnb3 Eaat1 Gfap Cacna1e Ctps2 Maoa TCA cycle Cacng8 Cacnb1 VEGFR2 Dopamine signalling Cacna1a Rasgrf1 Grin1 MAPK pathway Cacna1b Maob Cacna2d3 Lactate dehydrogenase B Lactate dehdrogenase A Tnf Glur2 Stxbp3 Grin2b Glur4 Glutaminase Scn2b Scn3b Scn1b Scn4b Pik3ca Glutamate Pcdh19 Mlst8 Mtor Prr5 Rictor Prr5l Mapkap1 Gabbr1 Gabbr2 Gad67 Nfkb1 Gabrb1 Scn1a Gabra3 D-glucose Grin2a Glur3 Gabrb3 Stx8 Glutamine synthetase Stxbp1 Pyruvate Glutamine synthesis Scn3a Glur1 Kcn2a Protein kinase C beta type Camk2a Scn1a Chd2 Na+ Na+ K+ Stxbp1 Mapk11 Fgf13 depolarization action potential Akt1 Gad65 K+ Ca2+ repolarization after action potential Scn1a cell-cell adhesion and recognition Mglur3 GABA Glutamatergic excitatory neuron Calm1 L-glutamine Stx16 Glutamate Glutamate Glutaminase AMPA receptor subunits Impaired GABA release leads to impaired inhibition of pyramidal cells Cl- Cl- GABA-A receptor subunits Potassium-chloride co-transporters, EGABA more depolarised GABA-B receptor heterodimer complex K+ Glutamate G-protein coupled inward- rectifying potassium channels ATP-sensitive inward- rectifying potassium channel L(+)-lactate Gabra1 KCC2 GIRK3 GIRK1 Kcnj10 Glut1 L(+)-lactate L(+)-lactate Mct2 Mct2 Lactate dehydrogenase B Lactate dehdrogenase A Pyruvate L(+)-lactate Snat3 Snat3 Glut3 D-glucose D-glucose GABA transporter 1 Gabra2 Gabra4 Na-K-Cl co-transporter Slc17a7 Ca2+ Ca2+ R-type calcium channel subunits N-type calcium channel subunits L-type calcium channel subunits Voltage-gated calcium channel subunits Na+ Na+ Camk2a Dopamine signalling Name: Dravet syndrome: Scn1a-A1783V point mutation model Organism: Mus musculus
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.
Try the New WikiPathways
View approved pathways at the new wikipathways.org .
Quality Tags
Featured version The current version of this pathway was tagged to be featured on the front page of WikiPathways by Daniela Digles .
Approved version The current version of this pathway was approved for data analysis by Daniela Digles .
Fix interactions Comment: 1 out of 76 lines are not properly connected.
Please help improving this pathway by connecting the ends of interactions to nodes.
Annotate nodes Comment: 4 out of 123 DataNodes have a missing external reference. Check DataNode table at the bottom of the page.
Please help improve this pathway by annotating gene, protein and metabolite nodes.
Ontology Terms
Bibliography
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
Annotated Interactions
No annotated interactions
Saving...
