Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.
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Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceExcitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum DisordersNINDS epilepsy and autism spectrum disorders workshop reportShould epileptiform discharges be treated?Corticosteroid therapy in regressive autism: a retrospective study of effects on the Frequency Modulated Auditory Evoked Response (FMAER), language, and behavior.Imaging and genetics of language and cognition in pediatric epilepsyGenetic effects on sleep/wake variation of seizures.Defective auditory processing in a child with temporal epileptic focus.Genetic background of extreme violent behavior.Autism spectrum disorder and epilepsy: Disorders with a shared biology.Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.Copy number variations in Saudi family with intellectual disability and epilepsy.Autism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin?Epilepsy with auditory features: A heterogeneous clinico-molecular disease.Analysis of rare copy number variation in absence epilepsies.Positive selection rather than relaxation of functional constraint drives the evolution of vision during chicken domestication.Genome-wide identification of transcriptional targets of RORA reveals direct regulation of multiple genes associated with autism spectrum disorder.αT-catenin in restricted brain cell types and its potential connection to autism.Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.GRIN2A mutations cause epilepsy-aphasia spectrum disorders.Epileptic encephalopathy with continuous spike-waves during sleep: the need for transition from childhood to adulthood medical care appears to be related to etiology.Towards the identification of a genetic basis for Landau-Kleffner syndrome.New genes for focal epilepsies with speech and language disorders.Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue.Current Treatment Options for Early-Onset Pediatric Epileptic Encephalopathies.Precision medicine in genetic epilepsies: break of dawn?A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.Clinical genetic study of the epilepsy-aphasia spectrum.Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.Parkinson disease related ATP13A2 evolved early in animal evolution.The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.Novel and de novo mutations in pediatric refractory epilepsy
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P2860
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Epileptic encephalopathies of ...... on makes the link with autism.
@en
Epileptic encephalopathies of ...... on makes the link with autism.
@nl
type
label
Epileptic encephalopathies of ...... on makes the link with autism.
@en
Epileptic encephalopathies of ...... on makes the link with autism.
@nl
prefLabel
Epileptic encephalopathies of ...... on makes the link with autism.
@en
Epileptic encephalopathies of ...... on makes the link with autism.
@nl
P2093
P2860
P50
P1433
P1476
Epileptic encephalopathies of ...... on makes the link with autism.
@en
P2093
Alexis Arzimanoglou
Anne de Saint Martin
Audrey Labalme
Clotilde Boulay
Edouard Hirsch
Gaetan Lesca
Jacques Motte
Julitta De Bellescize
Maria-Paola Valenti
Nadia Boutry-Kryza
P2860
P304
P356
10.1111/J.1528-1167.2012.03559.X
P577
2012-06-27T00:00:00Z