Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy

Epileptic encephalopathies (EE) include a range of severe epilepsies in which intractable seizures or severe sub‐clinical epileptiform activity are accompanied by impairment of motor and cognitive functions. Mutations in several genes including ion channels and other genes whose function is not comp...

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Veröffentlicht in:	American journal of medical genetics. Part A 2016-12, Vol.170A (12), p.3265-3270
Hauptverfasser:	Smigiel, Robert, Kostrzewa, Grazyna, Kosinska, Joanna, Pollak, Agnieszka, Stawinski, Piotr, Szmida, Elzbieta, Bloch, Michal, Szymanska, Krystyna, Karpinski, Pawel, Sasiadek, Maria M., Ploski, Rafal
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomarkers Child Chromosome Deletion Chromosomes, Human, Pair 4 Comparative Genomic Hybridization DNA Mutational Analysis Electroencephalography epilepsy Epilepsy - diagnosis Epilepsy - genetics epileptic encephalopathy Exome Genetic Association Studies GRIN2B High-Throughput Nucleotide Sequencing Humans Magnetic Resonance Imaging Male Mutation Neuroimaging Phenotype Physical Examination Receptors, N-Methyl-D-Aspartate - genetics RNA Splice Sites severe intellectual disability speech delay splicing mutation
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