A Novel Gain-of-Function GLUL Variant Is Associated With Developmental and Epileptic Encephalopathy With Enlarged Perivascular Spaces.

Abstract excerpt

Two clinical phenotypes are associated with GLUL mutations, from different inheritance mode. Recessive forms are associated with congenital glutamine deficiency, manifesting with severe brain malformation, multiorgan failure, and early death. A dominant form has recently been described, which involves dysregulated glutamine synthetase stability and manifests as developmental and epileptic encephalopathy (DEE)....

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