SHMARQL

epilepsy, familial focal, with variable foci

<http://www.wikidata.org/entity/Q55762943>

human disease
rdfs:label
"epilepsy, familial focal, with variable foci"@en
skos:altLabel "EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI"@en
"FFEVF"@en
"Familial partial epilepsy with variable foci"@en
"familial focal epilepsy with variable foci"@en
schema:description
"human disease"@en
schema:dateModified "2026-10-24T00:51:18+00:00"^^xsd:dateTime
schema:version 2560169477
wikibase:identifiers 6
wikibase:sitelinks 0
wikibase:statements 40
p:P1193 wd:statement/Q55762943-BEE89B46-1093-41A9-9DA2-B9E64A6EB388
p:P14914 wd:statement/Q55762943-02CE7D4B-4FE7-4E86-8B4B-A20EF0E2F978
p:P1550 wd:statement/Q55762943-8A9D0C0B-E8C8-4F23-9173-0DDD496C20FA
p:P2293 wd:statement/Q55762943-561819AF-F3DE-4634-B90F-6282332CB4B1
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wd:statement/Q55762943-9012667A-B4F2-4E60-A477-DB580940BB82
p:P279 wd:statement/Q55762943-3d1cfa59-4de0-5fc9-0395-80b41f774d4e
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wd:statement/Q55762943-61AD1ADD-E23F-4DD6-AA86-E39EC370AAFC
p:P2888 wd:statement/Q55762943-446B0A4B-BBD5-4A36-9F44-37A344DD2619
p:P31 wd:statement/Q55762943-3E81EAB6-B899-4B7E-B842-652594A941EF
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p:P4317 wd:statement/Q55762943-AC2DCD59-5452-4AB0-9A66-6CB003CDA232
p:P486 wd:statement/Q55762943-8792021B-2A03-4D8A-A474-39C646DBF3C7
p:P5270 wd:statement/Q55762943-C211F159-D0DD-4929-8FEA-BF82CE86CA41
p:P6532 wd:statement/Q55762943-0F3E74A9-C6D7-4C5B-82CF-8067CEDA37C4
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p:P665 wd:statement/Q55762943-10EB03CA-E298-4F8A-B8E9-D6065E3E498C
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C565785>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0020310>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H02214>
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D98820"
wdt:P1550 "98820"
wdt:P2293 SCN3A
NPRL3
DEPDC5
NPRL2
wdt:P279 familial partial epilepsy
wdt:P2841 infantile onset
childhood onset
juvenile onset
adult onset
wdt:P2888 <http://www.orpha.net/ORDO/Orphanet_98820>
wdt:P31 type of disease
rare disease
wdt:P4317 "13295"
wdt:P486 "C565785"
wdt:P5270 "MONDO_0020310"
wdt:P6532 auditory hallucination
visual hallucination
focal cortical dysplasia
tonic–clonic seizure
Interictal EEG abnormality
autism spectrum disorder
déjà vu
pallor
Multifocal epileptiform discharges
polymicrogyria
behavioral abnormality
disability affecting intellectual abilities
flushing
hemimegalencephaly
hypsarrhythmia
cognitive dysfunction
Nocturnal epilepsy
focal epilepsy
paresthesia
pain
expressive aphasia
wdt:P665 "H02214"
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