Details of Disease

General Information of Disease (ID: DISDZPIO)

Disease Name Developmental and epileptic encephalopathy, 47
Synonyms
developmental and epileptic encephalopathy 47; EIEE47; epileptic encephalopathy, early infantile, 47; EIEE47; FGF12 early infantile epileptic encephalopathy; DEE47; early infantile epileptic encephalopathy caused by mutation in FGF12; epileptic encephalopathy, early infantile, 47; epileptic encephalopathy, early infantile, type 47
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.
Disease Hierarchy
DISISEI2: Undetermined early-onset epileptic encephalopathy
DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy
DISZOCA3: Epileptic encephalopathy
DISDZPIO: Developmental and epileptic encephalopathy, 47
Disease Identifiers
MONDO ID
MONDO_0014949
UMLS CUI
C4310685
OMIM ID
617166
MedGen ID
934652

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FGF12 OTBM9QIO Strong Autosomal dominant [1]
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References

1 Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. Neurology. 2016 Jun 7;86(23):2162-70. doi: 10.1212/WNL.0000000000002752. Epub 2016 May 4.