Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Dana MarafiTadahiro MitaniSedat IsikayJozef HertecantMohammed AlmannaiKandamurugu ManickamRami Abou JamraAyman W El-HattabJaishen RajahJawid M FatihHaowei DuEnder KaracaYavuz BayramJaya PunethaJill Anne RosenfeldShalini N JhangianiEric BoerwinkleZeynep C AkdemirSerkan ErdinJill V HunterRichard A GibbsDavut PehlivanJennifer E PoseyJames R. LupskiPublished in: Annals of clinical and translational neurology (2020)
Detailed clinical characterization of 11 individuals from six unrelated families demonstrates that rare biallelic GRM7 pathogenic variants can cause DEEs, microcephaly, hypomyelination, and cerebral atrophy.