Dravet syndrome (Homo sapiens)

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4, 67109810876657Exocytosis of neurotransmittersin synaptic cleftNav1.1 Sodium channelα subunit binds only two different β subunits, either a β1 or β3 and a β2 or β4.TranslocationNucleusmTORC2influences gene expressionby chromatin modellingGABAergic inhibitory interneuronNav1.1SCN2BKCNA2PRR5SCN3AMTORMLST8SCN3BCALM1MAPK11PIK3CAPCDH19AKT1FGF13STXBP1Protein kinase CTNFSCN1APRR5LCHD2RICTORK+NFKB1Na+CAMK2ASyntaxinsCa2+MAPKAP1SCN1BSCN4B1, 216661Nav1.12Na+STXBP1depolarization action potentialK+repolarization afteraction potentialcell-celladhesion and recognition


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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  6. 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
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  11. 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
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)
CHD2GeneProductENSG00000173575 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
FGF13GeneProductENSG00000129682 (Ensembl)
K+MetaboliteCHEBI:29103 (ChEBI)
KCNA2GeneProductENSG00000177301 (Ensembl)
MAPK11GeneProductENSG00000185386 (Ensembl)
MAPKAP1GeneProductENSG00000119487 (Ensembl)
MLST8GeneProductENSG00000167965 (Ensembl)
MTORGeneProductENSG00000198793 (Ensembl)
NFKB1GeneProductENSG00000109320 (Ensembl)
Na+Metabolite29101 (ChEBI)
Nav1.1ProteinP35498 (Uniprot-TrEMBL)
PCDH19GeneProductENSG00000165194 (Ensembl)
PIK3CAGeneProductENSG00000121879 (Ensembl)
PRR5GeneProductENSG00000186654 (Ensembl)
PRR5LGeneProductENSG00000135362 (Ensembl)
Protein kinase CGeneProductPF00433 (Pfam)
RICTORGeneProductENSG00000164327 (Ensembl)
SCN1AGeneProductENSG00000144285 (Ensembl)
SCN1BGeneProductENSG00000105711 (Ensembl)
SCN2BGeneProductENSG00000149575 (Ensembl)
SCN3AGeneProductENSG00000153253 (Ensembl)
SCN3BGeneProductENSG00000166257 (Ensembl)
SCN4BGeneProductENSG00000177098 (Ensembl)
STXBP1GeneProductENSG00000136854 (Ensembl)
SyntaxinsGeneProductPF00804 (Pfam)
TNFGeneProductENSG00000232810 (Ensembl)

Annotated Interactions

No annotated interactions

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