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Details on Person epilepsy syndrome

Class:IdDisease:5653597
_displayNameepilepsy syndrome
_timestamp2014-12-01 15:59:14
created[InstanceEdit:5653590] Jassal, Bijay, 2014-12-01
definitionA brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
identifier1826
nameepilepsy syndrome
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymepilepsy
epileptic syndrome
(disease)[Pathway:5619083] Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) [Homo sapiens]
[FailedReaction:5653622] Defective SLC35A3 does not exchange UDP-GlcNAc for UMP [Homo sapiens]
[EntityWithAccessionedSequence:5653584] SLC35A3 S296G [Golgi membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5653611] SLC35A3 Q172* [Golgi membrane] [Homo sapiens]
[DefinedSet:5653620] SLC35A3 mutants [Golgi membrane] [Homo sapiens]
[ChemicalDrug:9700680] flunarizine [extracellular region]
[ChemicalDrug:9707415] acetazolamide [cytosol]
[ChemicalDrug:9707463] sultiame [cytosol]
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No pathways have been reviewed or authored by epilepsy syndrome (5653597)