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

doi:10.1002/acn3.51003

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Article

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

Annals of clinical and translational neurology - 1 May 2020

Marafi Dana, Mitani Tadahiro, Isikay Sedat, Hertecant Jozef, Almannai Mohammed, Manickam Kandamurugu, Abou Jamra Rami, El-Hattab Ayman W, Rajah Jaishen, Fatih Jawid M, Du Haowei, Karaca Ender, Bayram Yavuz, Punetha Jaya, Rosenfeld Jill A, Jhangiani Shalini N, Boerwinkle Eric, Akdemir Zeynep C, Erdin Serkan, Hunter Jill V, Gibbs Richard A, Pehlivan Davut, Posey Jennifer E, Lupski James R

Abstract excerpt

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...

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Identifiers

PMID: 32286009
DOI: 10.1002/acn3.51003
PMCID: PMC7261753

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