SPARQL | HTML5 RDFa and Microdata document
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    • http://purl.org/dc/terms/isPartOf
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    • http://purl.org/dc/terms/isPartOf
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    • http://www.w3.org/1999/02/22-rdf-syntax-ns#type
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      • http://vocabularies.wikipathways.org/wp#Pathway
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      • WikiPathways
    • http://purl.org/dc/elements/1.1/title
      • KCNQ2-related epilepsies
    • http://purl.org/dc/terms/description
      • KCNQ gene mutations are a common source for genetically caused epilepsies. KCNQ genes code for Kv7 subunits, which are required for Kv7 channels in the brain. These channels, also known as the M channels, are required for an outward potassium flow, known as the M current. Mutations in KCNQ genes and genes associated with Kv7 channel function can result in the impairment of this potassium flow. This leads to a constant state of depolarization in the neuron cells, which leads to increased excitabilty and a constant firing of action potentials, resulting in types of epilepsy.
    • http://purl.org/dc/terms/identifier
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      • https://identifiers.org/pubmed/12670425
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      • http://purl.obolibrary.org/obo/CL_0000540
      • http://purl.obolibrary.org/obo/DOID_1826
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      • http://vocabularies.wikipathways.org/wp#Curation:RareDiseases
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      • http://purl.obolibrary.org/obo/NCBITaxon_9606
    • http://vocabularies.wikipathways.org/wp#organismName
      • Homo sapiens
    • http://vocabularies.wikipathways.org/wp#pathwayOntologyTag
      • http://purl.obolibrary.org/obo/PW_0000013
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    • http://purl.org/dc/terms/isPartOf
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