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Details
Link-It Detail - Disease - SEIZURES, BENIGN FAMILIAL INFANTILE, 3
Debug Stats
  • ### Total Build Time: 12 ms 11.917 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 374 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
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  • CONCEPT_RELATIONSHIPS gt=8 ms Completed: 8 ms rowSize= 7.159 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 3.150 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.172 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 C1843140
Relationships (16)

Relation Types:
diso_​to_​diso : 16


Relationships:
expanded_​form_​of : 1
manifestation_​of : 15
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Caused by mutation in the alpha-1-subunit of the voltage-gated type II sodium channel gene (SCN2A, 182390.0002) C3277014
DISO_to_DISOmanifestation_ofimg Ictal EEG shows focal onset, often posterior region of brain C1969688
DISO_to_DISOmanifestation_ofimg Normal interictal EEG C1843146
DISO_to_DISOmanifestation_ofimg Normal psychomotor development C0520948
DISO_to_DISOmanifestation_ofimg Onset ranges from 2 days to 7 months (most at 2-3 months) C1843148
DISO_to_DISOmanifestation_ofimg Rigidity during seizures C1969686
DISO_to_DISOexpanded_form_ofimg SEIZURES, BENIGN FAMILIAL INFANTILE, 3 C1843140
DISO_to_DISOmanifestation_ofimg Secondary generalized tonic-clonic seizures may occur C1969683
DISO_to_DISOmanifestation_ofimg See also benign familial infantile convulsions (BFIC1, 601764) C1843151
DISO_to_DISOmanifestation_ofimg See also benign neonatal epilepsy (EBN1, 121200) C1843152
DISO_to_DISOmanifestation_ofimg Seizures are easily controlled by medications C1843149
DISO_to_DISOmanifestation_ofimg Seizures occur in clusters over 1 or several days C1969684
DISO_to_DISOmanifestation_ofimg Seizures often begin focally with head and eye deviation C1969685
DISO_to_DISOmanifestation_ofimg Seizures, partial, afebrile C1843141
DISO_to_DISOmanifestation_ofimg Spontaneous resolution by 12 months of age with no recurrence later in life C1969690
DISO_to_DISOmanifestation_ofimg Staring episodes during seizures C1969687
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanSCN2A6326sodium channel, voltage-gated, type II, alpha subunit
img GENERIF, Score=780, Pubmed Id: 17467289, UMLKSK CUI: C1843140
img GENERIF, Score=937, Pubmed Id: 18479388, UMLKSK CUI: C1843140
img GENERIF, Score=993, Pubmed Id: 17386050, UMLKSK CUI: C1843140
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1843140SEIZURES, BENIGN FAMILIAL INFANTILE, 30self