Dravet syndrome: Scn1a-A1783V point mutation model (Mus musculus)

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9149104355, 6451influences gene expressionby chromatin modellingmTORC2NMDA receptorsubunitsNav1.1 Sodium channelGABAergic inhibitory interneuronTranslocationNucleusGlial cellα subunit binds only two different β subunits, either a β1 or β3 and a β2 or β4.Cacnb3Cacnb4Cacna1aGrin1DopaminesignallingRasgrf1Cacna2d3MCT1Lactate dehydrogenase BEaat1Cacng8 TCA cycleVEGFR2Ctps2PyrimidinemetabolismCacna1bEpb41l3GfapEaat2MaoaPp1r1bMAPK pathwayGlycolysis and gluconeogenesisMaobCacna1eLactate dehdrogenase AEpb41l1Cacnb1TnfGlur2Stxbp3Grin2bGlur4GlutaminaseScn2bPik3caGlutamatePcdh19Mlst8Gabbr1Gad67Nfkb1Gabrb1Scn1aGabra3D-glucoseGabbr2Grin2aGlur3Gabrb3Scn3bStx8Glutamine synthetaseStxbp1PyruvateScn1bMtorScn4bPrr52, 7Glutamine synthesisScn3a2Glur155Rictor52Kcn2aProtein kinase Cbeta type7Camk2aScn1aPrr5lChd2Na+Na+K+Mapkap1Stxbp1Mapk11Fgf13depolarization action potentialAkt1Gad65K+Ca2+repolarization afteraction potentialScn1aMglur3cell-celladhesion and recognitionGABACalm1Glutamatergic excitatory neuronL-glutamineStx16GlutamateGlutamateGlutaminaseAMPA receptorsubunitsImpaired GABA release leads toimpaired inhibition of pyramidal cellsCl-Cl-GABA-A receptorsubunitsPotassium-chlorideco-transporters,EGABA more depolarisedGABA-B receptorheterodimer complexK+GlutamateG-protein coupled inward-rectifying potassium channelsATP-sensitive inward-rectifying potassium channelL(+)-lactateGabra1KCC2GIRK3GIRK1Kcnj10Glut1L(+)-lactateL(+)-lactateMct2Mct2Lactate dehydrogenase BLactate dehdrogenase APyruvateL(+)-lactateSnat3Snat3Glut3D-glucoseD-glucoseGABA transporter 1Gabra2Gabra4Na-K-Clco-transporterSlc17a7Ca2+Ca2+R-type calciumchannel subunitsN-type calciumchannel subunitsL-type calciumchannel subunitsVoltage-gated calciumchannel subunitsNa+Na+Camk2aDopaminesignalling


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.

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Bibliography

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  1. 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
  2. Bouza AA, Isom LL; ''''; , PubMed Europe PMC Scholia
  3. 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
  4. Gaudioso C, Carlier E, Youssouf F, Clare JJ, Debanne D, Alcaraz G; ''''; , PubMed Europe PMC Scholia
  5. Chen W, Sheng J, Guo J, Gao F, Zhao X, Dai J, Wang G, Li K; ''''; , PubMed Europe PMC Scholia
  6. Wada T, Penninger JM; ''''; , PubMed Europe PMC Scholia
  7. 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
  8. ''''; , PubMed Europe PMC Scholia
  9. Mossmann D, Park S, Hall MN; ''''; , PubMed Europe PMC Scholia
  10. Mei D, Cetica V, Marini C, Guerrini R; ''''; , PubMed Europe PMC Scholia

History

CompareRevisionActionTimeUserComment
124558view14:49, 8 November 2022DdiglesChanged Scn1a ensembl identifier from human to mouse
124463view09:33, 29 October 2022EgonwMade three pathways clickable
124409view14:32, 26 October 2022PepinmarshallNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
Akt1ProteinP31750 (Uniprot-TrEMBL)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
Cacna1aProteinP97445 (Uniprot-TrEMBL)
Cacna1bProteinO55017 (Uniprot-TrEMBL)
Cacna1eProteinQ61290 (Uniprot-TrEMBL)
Cacna2d3ProteinQ9Z1L5 (Uniprot-TrEMBL)
Cacnb1ProteinQ8R3Z5 (Uniprot-TrEMBL)
Cacnb3ProteinP54285 (Uniprot-TrEMBL)
Cacnb4ProteinQ8R0S4 (Uniprot-TrEMBL)
Cacng8 ProteinQ8VHW2 (Uniprot-TrEMBL)
Calm1ProteinP62204 (Uniprot-TrEMBL)
Camk2aProteinP11798 (Uniprot-TrEMBL)
Chd2ProteinE9PZM4 (Uniprot-TrEMBL)
Cl-MetaboliteCHEBI:17996 (ChEBI)
Ctps2ProteinP70303 (Uniprot-TrEMBL)
D-glucoseMetaboliteCHEBI:17634 (ChEBI)
Dopamine signallingPathway
Eaat1ProteinP56564 (Uniprot-TrEMBL)
Eaat2ProteinP43006 (Uniprot-TrEMBL)
Epb41l1GeneProductQ9Z2H5 (Uniprot-TrEMBL)
Epb41l3ProteinQ9WV92 (Uniprot-TrEMBL)
Fgf13ProteinP70377 (Uniprot-TrEMBL)
GABA transporter 1ProteinP31648 (Uniprot-TrEMBL)
GABAMetaboliteCHEBI:16865 (ChEBI)
GIRK1ProteinP63250 (Uniprot-TrEMBL)
GIRK3ProteinP48543 (Uniprot-TrEMBL)
Gabbr1ProteinQ9WV18 (Uniprot-TrEMBL)
Gabbr2ProteinQ80T41 (Uniprot-TrEMBL)
Gabra1ProteinP62812 (Uniprot-TrEMBL)
Gabra2ProteinP26048 (Uniprot-TrEMBL)
Gabra3ProteinP26049 (Uniprot-TrEMBL)
Gabra4ProteinQ9D6F4 (Uniprot-TrEMBL)
Gabrb1ProteinP50571 (Uniprot-TrEMBL)
Gabrb3ProteinP63080 (Uniprot-TrEMBL)
Gad65ProteinP48320 (Uniprot-TrEMBL)
Gad67ProteinP48318 (Uniprot-TrEMBL)
GfapProteinP03995 (Uniprot-TrEMBL)
Glur1ProteinP23818 (Uniprot-TrEMBL)
Glur2ProteinP23819 (Uniprot-TrEMBL)
Glur3ProteinQ9Z2W9 (Uniprot-TrEMBL)
Glur4ProteinQ9Z2W8 (Uniprot-TrEMBL)
Glut1ProteinP17809 (Uniprot-TrEMBL)
Glut3ProteinP32037 (Uniprot-TrEMBL)
GlutamateMetaboliteCHEBI:16015 (ChEBI)
GlutaminaseProteinD3Z7P4 (Uniprot-TrEMBL)
Glutamine synthesisPathway
Glutamine synthetaseProteinP15105 (Uniprot-TrEMBL)
Glycolysis and gluconeogenesisPathwayWP157 (WikiPathways)
Grin1ProteinP35438 (Uniprot-TrEMBL)
Grin2aProteinP35436 (Uniprot-TrEMBL)
Grin2bProteinQ01097 (Uniprot-TrEMBL)
K+MetaboliteCHEBI:29103 (ChEBI)
KCC2ProteinQ91V14 (Uniprot-TrEMBL)
Kcn2aProteinP63141 (Uniprot-TrEMBL)
Kcnj10ProteinQ9JM63 (Uniprot-TrEMBL)
L(+)-lactateMetaboliteCHEBI:16651 (ChEBI)
L-glutamineMetaboliteCHEBI:58359 (ChEBI)
Lactate dehdrogenase AProteinP06151 (Uniprot-TrEMBL)
Lactate dehydrogenase BProteinP16125 (Uniprot-TrEMBL)
MAPK pathwayPathwayWP493 (WikiPathways)
MCT1ProteinP53986 (Uniprot-TrEMBL)
MaoaProteinQ64133 (Uniprot-TrEMBL)
MaobProteinQ8BW75 (Uniprot-TrEMBL)
Mapk11ProteinQ9WUI1 (Uniprot-TrEMBL)
Mapkap1ProteinQ8BKH7 (Uniprot-TrEMBL)
Mct2ProteinO70451 (Uniprot-TrEMBL)
Mglur3ProteinQ9QYS2 (Uniprot-TrEMBL)
Mlst8ProteinQ9DCJ1 (Uniprot-TrEMBL)
MtorProteinQ9JLN9 (Uniprot-TrEMBL)
Na+Metabolite29101 (ChEBI)
Na+MetaboliteCHEBI:29101 (ChEBI)
Nfkb1ProteinP25799 (Uniprot-TrEMBL)
Pcdh19ProteinQ80TF3 (Uniprot-TrEMBL)
Pik3caProteinP42337 (Uniprot-TrEMBL)
Pp1r1bProteinQ60829 (Uniprot-TrEMBL)
Protein kinase C beta typeGeneProductp68404 (Uniprot-TrEMBL)
Prr5ProteinQ812A5 (Uniprot-TrEMBL)
Prr5lProteinA2AVJ5 (Uniprot-TrEMBL)
Pyrimidine metabolismPathway
PyruvateMetaboliteCHEBI:32816 (ChEBI)
Rasgrf1ProteinP27671 (Uniprot-TrEMBL)
RictorProteinQ6QI06 (Uniprot-TrEMBL)
Scn1aProteinA2APX8 (Uniprot-TrEMBL)
Scn1aGeneProductENSMUSG00000064329 (Ensembl)
Scn1bProteinP97952 (Uniprot-TrEMBL)
Scn2bProteinQ56A07 (Uniprot-TrEMBL)
Scn3aProteinA2ASI5 (Uniprot-TrEMBL)
Scn3bProteinQ8BHK2 (Uniprot-TrEMBL)
Scn4bProteinQ7M729 (Uniprot-TrEMBL)
Slc17a7ProteinQ3TXX4 (Uniprot-TrEMBL)
Snat3ProteinQ9DCP2 (Uniprot-TrEMBL)
Stx16ProteinQ8BVI5 (Uniprot-TrEMBL)
Stx8ProteinO88983 (Uniprot-TrEMBL)
Stxbp1ProteinO08599 (Uniprot-TrEMBL)
Stxbp3ProteinQ60770 (Uniprot-TrEMBL)
TCA cyclePathwayWP434 (WikiPathways)
TnfProteinP06804 (Uniprot-TrEMBL)
VEGFR2ProteinP35918 (Uniprot-TrEMBL)

Annotated Interactions

No annotated interactions

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