Details of Disease

General Information of Disease (ID: DISSOK3E)

Disease Name Developmental and epileptic encephalopathy, 75
Synonyms developmental and epileptic encephalopathy 75; EIEE75; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75; DEE75; epileptic encephalopathy, early infantile, 75
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISSOK3E: Developmental and epileptic encephalopathy, 75
Disease Identifiers
MONDO ID
MONDO_0032752
UMLS CUI
C5193099
OMIM ID
618437
MedGen ID
1684253

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
PARS2 OTMBBH7K Strong Autosomal recessive [1]
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References

1 Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. Mol Genet Genomic Med. 2015 Jan;3(1):59-68. doi: 10.1002/mgg3.115. Epub 2014 Oct 23.