Further evidence forGRIN2Bmutation as the cause of severe epileptic encephalopathy

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

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Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?

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Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

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De Novo Mutations in Moderate or Severe Intellectual Disability

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GRIN2Amutation and early-onset epileptic encephalopathy: personalized therapy with memantine

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GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy

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Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

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De novo mutations in epileptic encephalopathies

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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

(2013) Johannes R Lemke et al.   NATURE GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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