Browsing by Author "Rajah, Jaishen"

Now showing items 1-1 of 1

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Marafi, Dana; Mitani, Tadahiro; Işıkay, Şedat; Hertecant, Jozef L.; 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 Anne; Jhangiani, Shalini N.; Boerwinkle, Eric; Akdemir, Zeynep Coban; Erdin, Serkan; Hunter, Jill Vanessa; Gibbs, Richard A.; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R. (Wiley-Blackwell, 1 May 2020)

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 ...