developmental and epileptic encephalopathy 39

Summary
Synonym
  • AGC1 deficiency
  • early infantile epileptic encephalopathy 39
  • epileptic encephalopathy with global cerebral demyelination
Definition
A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.
Super Class
autosomal recessive disease developmental and epileptic encephalopathy
External Links
Disease Ontology
DOID:0080349
Mondo Disease Ontology
MeSH
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
176 ACAN aggrecan
8604 SLC25A12 solute carrier family 25 member 12
Displaying 1 entry
Gene ID Gene Symbol Description Source
43616 aralar1 aralar1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P16112 Aggrecan core protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024