A mutated GRM7 glutamate receptor in several cases of severe recessive epilepsy.

Thanks to a collaboration between the Human Neurogenetics team and the Pediatric Neurology department of the Hedi Chaker hospital in Sfax (Tunisia), we have identified a large family in which a homozygous variant of the glutamate receptor GRM7 causes a very severe clinical picture. This article extends the phenotypic spectrum linked to GRM7, a currently poorly described epileptic encephalopathy.