Dravet syndrome (Homo sapiens)

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687, 8684546α subunit binds only two different β subunits, either a β1 or β3 and a β2 or β4.mTORC2NucleusNav1.1 Sodium channelGABAergic inhibitory interneuronPRR5CALM1SCN2BSCN3ANav1.1CAMK2APRR5LCa2+MLST8MTORPIK3CATNFSCN1ANFKB1AKT1MAPKAP1SCN3BRICTORMAPK11Na+SCN1BSCN4B2, 3, 9288823, 9Nav1.1


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.

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Ontology Terms

 

Bibliography

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  1. Bouza AA, Isom LL; ''Voltage-Gated Sodium Channel β Subunits and Their Related Diseases.''; Handb Exp Pharmacol, 2018 PubMed Europe PMC Scholia
  2. Mossmann D, Park S, Hall MN; ''mTOR signalling and cellular metabolism are mutual determinants in cancer.''; Nat Rev Cancer, 2018 PubMed Europe PMC Scholia
  3. 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; ''Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture.''; J Neurosci, 2004 PubMed Europe PMC Scholia
  4. Wada T, Penninger JM; ''Mitogen-activated protein kinases in apoptosis regulation.''; Oncogene, 2004 PubMed Europe PMC Scholia
  5. 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
  6. 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
  7. Chen W, Sheng J, Guo J, Gao F, Zhao X, Dai J, Wang G, Li K; ''Tumor necrosis factor-α enhances voltage-gated Na� currents in primary culture of mouse cortical neurons.''; J Neuroinflammation, 2015 PubMed Europe PMC Scholia
  8. Gaudioso C, Carlier E, Youssouf F, Clare JJ, Debanne D, Alcaraz G; ''Calmodulin and calcium differentially regulate the neuronal Nav1.1 voltage-dependent sodium channel.''; Biochem Biophys Res Commun, 2011 PubMed Europe PMC Scholia
  9. Mei D, Cetica V, Marini C, Guerrini R; ''Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.''; Epilepsia, 2019 PubMed Europe PMC Scholia
  10. Gee SH, Madhavan R, Levinson SR, Caldwell JH, Sealock R, Froehner SC; ''Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins.''; J Neurosci, 1998 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
140209view08:04, 7 August 2025EgonwMore unicode
140115view05:49, 29 July 2025EgonwRemoved duplicate BioPax fields
140114view05:47, 29 July 2025EgonwMore unicode
135747view10:03, 7 November 2024FehrhartAdded SNTA1
134566view22:49, 22 July 2024EweitzOntology Term : 'pyramidal neuron' added !
124413view14:47, 26 October 2022PepinmarshallModified title
124412view14:42, 26 October 2022PepinmarshallReverted to version '14:41, 26 October 2022' by Pepinmarshall
124410view14:41, 26 October 2022Pepinmarshall
124407view13:58, 26 October 2022PepinmarshallChanged geneproducts into proteins, except SCN1A under transcription in the nucleus
124406view13:44, 26 October 2022PepinmarshallMinor edits to test editing rights; updated gene name to protein name for Kv1.2, added dashed line to link between Na+ and PKC as Na+ does not activate it directly, rather via DAG and Ca2+
123909view09:44, 30 August 2022FehrhartAdded release of GABA
123908view09:37, 30 August 2022FehrhartOntology Term : 'GABAergic interneuron' added !
123541view10:35, 3 August 2022FehrhartModified description
123444view12:21, 27 July 2022Fehrhartadded more nodes
123442view08:12, 27 July 2022FehrhartUpdated references
123441view07:18, 27 July 2022FehrhartChanged some faulty identifiers
122392view12:59, 28 March 2022FehrhartCorrected references
122390view12:16, 28 March 2022FehrhartOntology Term : 'neuron' added !
122389view12:16, 28 March 2022FehrhartOntology Term : 'disease pathway' added !
122388view12:16, 28 March 2022FehrhartOntology Term : 'Dravet syndrome' added !
122381view11:40, 26 March 2022EgonwRemoved a space from the PubMed ID
122377view11:16, 25 March 2022LeadoernerReorganization
122376view10:23, 25 March 2022MiriamBabukhianAdded Nav1.1 phosporylation by AKT1
122369view14:09, 24 March 2022LeadoernerChange in Nav1.1 identifyer
122367view10:37, 24 March 2022MiriamBabukhianChnged all identifiers to ENSEMBL
122366view08:48, 24 March 2022LeadoernerAddition of Nav1.3
122349view17:27, 22 March 2022LeadoernerChange of an identifyer
122317view18:27, 17 March 2022LeadoernerChanges in annotations
121997view07:29, 9 March 2022LeadoernerMinor changes
121978view18:40, 8 March 2022LeadoernerComplex and group were created
121949view16:36, 8 March 2022LeadoernerInteractions were improved
121687view07:47, 25 February 2022LeadoernerI corrected the annotations
121676view14:41, 24 February 2022MiriamBabukhianConnections were fixed
121674view13:16, 24 February 2022LeadoernerModified description
121629view11:39, 22 February 2022MiriamBabukhianNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AKT1GeneProductENSG00000142208 (Ensembl)
CALM1ProteinENSG00000198668 (Ensembl)
CAMK2AGeneProductENSG00000070808 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
MAPK11GeneProductENSG00000185386 (Ensembl)
MAPKAP1GeneProductENSG00000119487 (Ensembl)
MLST8GeneProductENSG00000167965 (Ensembl)
MTORGeneProductENSG00000198793 (Ensembl)
NFKB1GeneProductENSG00000109320 (Ensembl)
Na+Metabolite63005 (ChEBI)
Nav1.1ProteinP35498 (Uniprot-TrEMBL)
PIK3CAGeneProductENSG00000121879 (Ensembl)
PRR5GeneProductENSG00000186654 (Ensembl)
PRR5LGeneProductENSG00000135362 (Ensembl)
RICTORGeneProductENSG00000164327 (Ensembl)
SCN1AGeneProductENSG00000144285 (Ensembl)
SCN1BGeneProductENSG00000105711 (Ensembl)
SCN2BGeneProductENSG00000149575 (Ensembl)
SCN3AGeneProductENSG00000153253 (Ensembl)
SCN3BGeneProductENSG00000166257 (Ensembl)
SCN4BGeneProductENSG00000177098 (Ensembl)
TNFGeneProductENSG00000228978 (Ensembl)

Annotated Interactions

No annotated interactions

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