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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ann Clin Transl Neurol
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2020
Pynciau:
Research Articles
Mynediad Ar-lein: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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