Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

The tower of Babel: Survey on concepts and terminology in electrical status epilepticus in sleep and continuous spikes and waves during sleep in North America

(2012) Iván Sánchez Fernández et al.   EPILEPSIA

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism

(2012) Gaetan Lesca et al.   EPILEPSIA

Enhanced NMDA Receptor-Dependent Thalamic Excitation and Network Oscillations in Stargazer Mice

(2012) C. J. Lacey et al.   JOURNAL OF NEUROSCIENCE

Genetic Deletion of NR3A Accelerates Glutamatergic Synapse Maturation

(2012) Maile A. Henson et al.   PLoS One

Glutamate receptor composition of the post-synaptic density is altered in genetic mouse models of NMDA receptor hypo- and hyperfunction

(2011) Darrick T. Balu et al.   BRAIN RESEARCH

The genetics of Dravet syndrome

(2011) Carla Marini et al.   EPILEPSIA

A review of the relationships between Landau–Kleffner syndrome, electrical status epilepticus during sleep, and continuous spike–waves during sleep

(2011) John R. Hughes   EPILEPSY & BEHAVIOR

The NMDA receptor complex as a therapeutic target in epilepsy: a review

(2011) Mehdi Ghasemi et al.   EPILEPSY & BEHAVIOR

Molecular basis of NMDA receptor functional diversity

(2011) Pierre Paoletti   EUROPEAN JOURNAL OF NEUROSCIENCE

Misplaced NMDA receptors in epileptogenesis contribute to excitotoxicity

(2011) Angelisa Frasca et al.   NEUROBIOLOGY OF DISEASE

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

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Pleiotropic effects of the 11p13 locus on developmental verbal dyspraxia and EEG centrotemporal sharp waves

(2010) D. K. Pal et al.   GENES BRAIN AND BEHAVIOR

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

(2010) Sabine Endele et al.   NATURE GENETICS

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)

(2009) Lisa J Strug et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

TheSCN1Avariant database: a novel research and diagnostic tool

(2009) Lieve RF Claes et al.   HUMAN MUTATION

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility

(2008) Andre Franke et al.   NATURE GENETICS