Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy
We presented analyses of the GLUL-related developmental and epileptic encephalopathy with detailed clinical descriptions and identified novel pathogenic variants. Comparative analysis of genotypes and phenotypes revealed the diverse nature of the disease, expanding our knowledge about the genetic and clinical spectrum of GLUL-related disorder. Overall design: RNASeq for a muscle specimen of a patient with a novel GLUL variant