Condition: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT


rs1554770054 in GRIN1 gene and NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 27164704 2016 Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

PMID 28095420 2017 Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

PMID 25864721 2015 GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 28228639 2017 GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.

PMID 28389307 2017 De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.