developmental and epileptic encephalopathy 116

Summary
Synonym
  • DEE116
Definition
A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3.
Super Class
amino acid metabolic disorder autosomal dominant disease developmental and epileptic encephalopathy
Disease Ontology
DOID:0070545
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2752 GLUL glutamate-ammonia ligase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P15104 Glutamine synthetase

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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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