BiallelicGRM7variants cause epilepsy, microcephaly, and cerebral atrophy

Volume: 7, Issue: 5, Pages: 610 - 627
Published: Apr 14, 2020
Abstract
Objective Defects in ion channels and neurotransmitter receptors are implicated in developmental and epileptic encephalopathy (DEE). Metabotropic glutamate receptor 7 (mGluR7), encoded by GRM7, is a presynaptic G‐protein‐coupled glutamate receptor critical for synaptic transmission. We previously proposed GRM7 as a candidate disease gene in two families with neurodevelopmental disorders (NDDs). One additional family has been published since....
Paper Details
Title
BiallelicGRM7variants cause epilepsy, microcephaly, and cerebral atrophy
Published Date
Apr 14, 2020
Volume
7
Issue
5
Pages
610 - 627
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