Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
0.310 Biomarker group CTD_human Here we demonstrate that about 20% of cases of LKS, CSWSS and electroclinically atypical rolandic epilepsy often associated with speech impairment can have a genetic origin sustained by de novo or inherited mutations in the GRIN2A gene (encoding the N-methyl-D-aspartate (NMDA) glutamate receptor α2 subunit, GluN2A). 23933820 2013
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
0.310 GeneticVariation group BEFREE Here we demonstrate that about 20% of cases of LKS, CSWSS and electroclinically atypical rolandic epilepsy often associated with speech impairment can have a genetic origin sustained by de novo or inherited mutations in the GRIN2A gene (encoding the N-methyl-D-aspartate (NMDA) glutamate receptor α2 subunit, GluN2A). 23933820 2013