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Details on Person early infantile epileptic encephalopathy

Class:IdDisease:5632824
_displayNameearly infantile epileptic encephalopathy
_timestamp2023-04-07 10:52:18
created[InstanceEdit:5632829] Jassal, Bijay, 2014-10-29
identifier0050709
modified[InstanceEdit:9832765] Orlic-Milacic, Marija, 2023-04-07
nameearly infantile epileptic encephalopathy
referenceDatabase[ReferenceDatabase:1247631] DOID
synonyminfantile spasm
(disease)[EntityWithAccessionedSequence:5632825] SLC2A1 R223P [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5632827] SLC2A1 K456* [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5632835] SLC2A1 Y449* [plasma membrane] [Homo sapiens]
[DefinedSet:5632862] SLC2A1 mutants [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5632866] SLC2A1 R126L [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5632870] SLC2A1 K256V [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5632874] SLC2A1 S342L [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5652088] SLC35A2 F324Lfs*25 [Golgi membrane] [Homo sapiens]
[DefinedSet:5652113] SLC35A2 mutants [Golgi membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5652114] SLC35A2 Y145Pfs*76 [Golgi membrane] [Homo sapiens]
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No pathways have been reviewed or authored by early infantile epileptic encephalopathy (5632824)