Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

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 p...

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Bibliografiske detaljer
Udgivet i:Ann Clin Transl Neurol
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
Fag:
Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7261753/
https://ncbi.nlm.nih.gov/pubmed/32286009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51003
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