Article
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
American journal of human genetics - 2 Sept 2021
Stolz Jacob R, Foote Kendall M, Veenstra-Knol Hermine E, Pfundt Rolph, Ten Broeke Sanne W, de Leeuw Nicole, Roht Laura, Pajusalu Sander, Part Reelika, Rebane Ionella, Õunap Katrin, Stark Zornitza, Kirk Edwin P, Lawson John A, Lunke Sebastian, Christodoulou John, Louie Raymond J, Rogers R Curtis, Davis Jessica M, Innes A Micheil, Wei Xing-Chang, Keren Boris, Mignot Cyril, Lebel Robert Roger, Sperber Steven M, Sakonju Ai, Dosa Nienke, Barge-Schaapveld Daniela Q C M, Peeters-Scholte Cacha M P C D, Ruivenkamp Claudia A L, van Bon Bregje W, Kennedy Joanna, Low Karen J, Ellard Sian, Pang Lewis, Junewick Joseph J, Mark Paul R, Carvill Gemma L, Swanson Geoffrey T
Abstract excerpt
Kainate receptors (KARs) are glutamate-gated cation channels with diverse roles in the central nervous system. Bi-allelic loss of function of the KAR-encoding gene GRIK2 causes a nonsyndromic neurodevelopmental disorder (NDD) with intellectual disability and developmental delay as core features. The extent to which mono-allelic variants in GRIK2 also underlie NDDs is less understood because only a single...
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