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Paper Details

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Ann Clin Transl Neurol
11
2020
Arg659Ter, Arg685Gln, DEE, DEEs, Developmental delay, G-protein-coupled glutamate receptor, GRM7, GRM7 biallelic variants, GRM7 variants, Glu891Lys, Metabotropic glutamate receptor 7, NDDs, c, c.1973G>A, c.1975C, c.1975C>T, c.2671G>A, cerebral atrophy, developmental and epileptic encephalopathy, epilepsy, glutamate, hypomyelination, hypothalamic-pituitary-axis dysfunction, loss of myelination, mGluR7, microcephaly, neonatal- or infantile-onset epilepsy, neurodevelopmental disorders, p.Arg685Gln, p.Glu891Lys, pituitary structural abnormality
Author NameAffiliation
Sedat I????kayHasan Kalyoncu University
Kandamurugu ManickamNationwide Children's Hospital
Shalini N JhangianiBaylor College of Medicine
Eric BoerwinkleBaylor College of Medicine
Eric BoerwinkleUniversity of Texas Health Science Center at Houston
Eric BoerwinkleBaylor College of Medicine
Eric BoerwinkleUniversity of Texas Health Science Center at Houston
Zeynep Coban AkdemirBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Jennifer E PoseyBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
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