Article
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant.
European journal of medical genetics - 1 May 2022
De Bernardi Margherita Lucia, Di Stazio Agnese, Romano Alfonso, Minardi Raffaella, Bisulli Francesca, Licchetta Laura, Aiello Salvatore, Carelli Valerio, Brunetti-Pierri Nicola, Cappuccio Gerarda, Terrone Gaetano
Abstract excerpt
GRIN2A encodes for the 2A subunit of N-methyl-D-aspartate receptors. Pathogenic variants in GRIN2A have been associated with a wide spectrum of neurodevelopmental disorders ranging from speech disorders and/or self-limiting epilepsy (childhood epilepsy with centrotemporal spikes) to severe and disabling phenotypes (atypical childhood epilepsy with centrotemporal spikes, epileptic encephalopathy with continuous...
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