Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novoGRIN2Amutation

Genetics of the epilepsies

(2013) Ingo Helbig et al.   CURRENT OPINION IN NEUROLOGY

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

(2013) Johannes R Lemke et al.   NATURE GENETICS

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

(2013) Gaetan Lesca et al.   NATURE GENETICS

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

(2013) Gemma L Carvill et al.   NATURE GENETICS

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease

(2013) Pierre Paoletti et al.   NATURE REVIEWS NEUROSCIENCE

Two Patients With a GRIN2A Mutation and Childhood-onset Epilepsy

(2013) Seth P. DeVries et al.   PEDIATRIC NEUROLOGY

Molecular mechanisms of antiseizure drug activity at GABAA receptors

(2013) L. John Greenfield   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region

(2010) Constanze Reutlinger et al.   EPILEPSIA

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS