Dravet syndrome (Homo sapiens)

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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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Ontology Terms

 

Bibliography

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  5. Wada T, Penninger JM; ''''; , PubMed Europe PMC Scholia
  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
  7. 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
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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
AKT1ProteinP31749 (Uniprot-TrEMBL)
CALM1ProteinP0DP23 (Uniprot-TrEMBL)
CAMK2AProteinQ9UQM7 (Uniprot-TrEMBL)
CHD2ProteinO14647 (Uniprot-TrEMBL)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
FGF13ProteinQ92913 (Uniprot-TrEMBL)
GABAMetaboliteCHEBI:16865 (ChEBI)
HCN1ProteinO60741 (Uniprot-TrEMBL)
K+MetaboliteCHEBI:29103 (ChEBI)
Kv1.2ProteinP16389 (Uniprot-TrEMBL)
MAPK11ProteinQ15759 (Uniprot-TrEMBL)
MAPKAP1ProteinQ9BPZ7 (Uniprot-TrEMBL)
MLST8ProteinQ9BVC4 (Uniprot-TrEMBL)
MTORProteinP42345 (Uniprot-TrEMBL)
NFKB1ProteinP19838 (Uniprot-TrEMBL)
Na+Metabolite29101 (ChEBI)
Nav1.1ProteinP35498 (Uniprot-TrEMBL)
Nav1.2ProteinQ99250 (Uniprot-TrEMBL)
Nav1.3ProteinQ9NY46 (Uniprot-TrEMBL)
Nav1.6ProteinQ9UQD0 (Uniprot-TrEMBL)
PCDH19ProteinQ8TAB3 (Uniprot-TrEMBL)
PIK3CAProteinP42336 (Uniprot-TrEMBL)
PRKCAProteinP17252 (Uniprot-TrEMBL)
PRR5LProteinQ6MZQ0 (Uniprot-TrEMBL)
PRR5ProteinP85299 (Uniprot-TrEMBL)
RICTORProteinQ6R327 (Uniprot-TrEMBL)
SCN1AGeneProductENSG00000144285 (Ensembl)
SCN1BProteinQ07699 (Uniprot-TrEMBL)
SCN2BProteinO60939 (Uniprot-TrEMBL)
SCN3BProteinQ9NY72 (Uniprot-TrEMBL)
SCN4BProteinQ8IWT1 (Uniprot-TrEMBL)
SNTA1GeneProductENSG00000101400 (Ensembl) Guides the positioning of Nav1.1 on the membrane
STXBP1ProteinP61764 (Uniprot-TrEMBL)
SyntaxinMetaboliteQ390407 (Wikidata)
TNFProteinP01375 (Uniprot-TrEMBL)

Annotated Interactions

No annotated interactions

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