Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy

Delineating the GRIN1 phenotypic spectrum

(2016) Johannes R. Lemke et al.   NEUROLOGY

Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy

(2015) Emanuela Dazzo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GRIN1mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

(2015) Chihiro Ohba et al.   EPILEPSIA

GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy

(2013) Johannes R. Lemke et al.   ANNALS OF NEUROLOGY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

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

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

(2013) Pierre Paoletti et al.   NATURE REVIEWS NEUROSCIENCE

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and genetic heterogeneity in laminopathies

(2011) Anne T. Bertrand et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations

(2010) Jeffrey D. Stumpf et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

(2010) Sabine Endele et al.   NATURE GENETICS