Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.
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Human GRIN2B variants in neurodevelopmental disordersUnderstanding Genotypes and Phenotypes in Epileptic EncephalopathiesImaging and genetics of language and cognition in pediatric epilepsyGRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.Genetic insights into the functional elements of language.Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.Effects of sex and DTNBP1 (dysbindin) null gene mutation on the developmental GluN2B-GluN2A switch in the mouse cortex and hippocampus.Continuous Spikes and Waves during Sleep: Electroclinical Presentation and Suggestions for Management.Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.A 12p13 GRIN2B deletion is associated with developmental delay and macrocephalyGRIN2A mutations cause epilepsy-aphasia spectrum disorders.Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.Epilepsy: old syndromes, new genes.Towards the identification of a genetic basis for Landau-Kleffner syndrome.New genes for focal epilepsies with speech and language disorders.Single-Gene Determinants of Epilepsy Comorbidity.Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue.miR-137, a new target for post-stroke depression?Precision medicine in genetic epilepsies: break of dawn?Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.CNVs in Epilepsy.Glutamate receptors and learning and memory.Clinical genetic study of the epilepsy-aphasia spectrum.Comprehensive analysis of candidate genes for photosensitivity using a complementary bioinformatic and experimental approach.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.Array-CGH
P2860
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P2860
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
Deletions in 16p13 including G ...... orders of the rolandic region.
@en
Deletions in 16p13 including G ...... orders of the rolandic region.
@nl
type
label
Deletions in 16p13 including G ...... orders of the rolandic region.
@en
Deletions in 16p13 including G ...... orders of the rolandic region.
@nl
prefLabel
Deletions in 16p13 including G ...... orders of the rolandic region.
@en
Deletions in 16p13 including G ...... orders of the rolandic region.
@nl
P2093
P1433
P1476
Deletions in 16p13 including G ...... sorders of the rolandic region
@en
P2093
Andreas van Baalen
Barbara Gawelczyk
Constanze Reutlinger
Gabriele Gillessen-Kaesbach
Hiltrud Muhle
Holger Tönnies
Ingo Helbig
Jose Ignacio Martin Subero
Jürgen Sperner
Katrin Finsterwalder
P304
P356
10.1111/J.1528-1167.2010.02555.X
P577
2010-09-01T00:00:00Z