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Paper Details

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
37
2020
DEE syndrome, DEEs, Developmental and/or epileptic encephalopathies, G, Met12Val, UDP, UDP-glucose pyrophosphorylase, UDP-glucose pyrophosphorylase (UGP2) gene, UGP2, UGP2 enzyme, UGP2 isoforms, UGP2 protein isoform, Ugp2a, Ugp2b, autosomal recessive, chr2:, developmental delay, dysmorphisms, epileptic encephalopathy, essential genes, genetic disorders, glucose, human, human cells, intractable epilepsy, microcephaly, neural stem cells, pluripotent stem cell, seizures, start codon, visual disturbance, zebrafish
Author NameAffiliation
Lauren BrickMcMaster Children's Hospital
Mariya KozenkoMcMaster Children's Hospital
Jennefer N KohlerStanford University School of Medicine
Jonathan A BernsteinStanford University School of Medicine
Jana VandrovcovaUCL Queen Square Institute of Neurology
Murat GunelYale School of Medicine, Yale University
Henry HouldenUCL Queen Square Institute of Neurology
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