Dravet syndrome (WP5200)

Homo sapiens

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.


Miriam Babukhian , Lea Doerner , Egon Willighagen , Friederike Ehrhart , and Pepin Marshall


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Homo sapiens


Rare Diseases


Cell Type Ontology

neuron GABAergic interneuron

Disease Ontology

Dravet syndrome

Pathway Ontology

disease pathway


Label Type Compact URI Comment
K+ Metabolite chebi:29103
Ca2+ Metabolite chebi:29108
GABA Metabolite chebi:16865
Syntaxin Metabolite wikidata:Q390407
Na+ Metabolite chebi:29101
Na+ Metabolite chebi:29101
K+ Metabolite chebi:29103
GABA Metabolite chebi:16865
Na+ Metabolite chebi:29101
K+ Metabolite chebi:29103
SCN1A GeneProduct ensembl:ENSG00000144285
PRR5L Protein uniprot:Q6MZQ0
PRKCA Protein uniprot:P17252
MLST8 Protein uniprot:Q9BVC4
Nav1.6 Protein uniprot:Q9UQD0
Nav1.2 Protein uniprot:Q99250
PRR5 Protein uniprot:P85299
Kv1.2 Protein uniprot:P16389
FGF13 Protein uniprot:Q92913
MAPKAP1 Protein uniprot:Q9BPZ7
STXBP1 Protein uniprot:P61764
SCN3B Protein uniprot:Q9NY72
NFKB1 Protein uniprot:P19838
HCN1 Protein uniprot:O60741
Nav1.1 Protein uniprot:P35498
CHD2 Protein uniprot:O14647
CAMK2A Protein uniprot:Q9UQM7
PCDH19 Protein uniprot:Q8TAB3
RICTOR Protein uniprot:Q6R327
Nav1.3 Protein uniprot:Q9NY46
PIK3CA Protein uniprot:P42336
SCN2B Protein uniprot:O60939
MTOR Protein uniprot:P42345
TNF Protein uniprot:P01375
AKT1 Protein uniprot:P31749
CALM1 Protein uniprot:P0DP23
MAPK11 Protein uniprot:Q15759
SCN1B Protein uniprot:Q07699
SCN4B Protein uniprot:Q8IWT1
Nav1.1 Protein uniprot:P35498
STXBP1 Protein uniprot:P61764
Nav1.3 Protein uniprot:Q9NY46


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