Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

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. Here, we describe three additional families with GRM7 biallelic variants and deeply characterize the associated clinical neurological and electrophysiological phenotype and molecular data in 11 affected individuals from six unrelated families.

Methods

Exome sequencing and family-based rare variant analyses on a cohort of 220 consanguineo

SUBMITTER: Marafi D 

PROVIDER: S-EPMC7261753 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature