Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
about
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Neuropathology and animal models of autism: genetic and environmental factorsRecent advances in the pathogenesis of syndromic autismsThe Role of Epilepsy and Epileptiform EEGs in Autism Spectrum DisordersAdvances in autism genetics: on the threshold of a new neurobiologyAutism: many genes, common pathways?Unraveling autismLinkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility geneMolecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disordersA functional genetic link between distinct developmental language disordersCNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in DrosophilaAutosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2FOXP2A high-coverage genome sequence from an archaic Denisovan individualA locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3.Genetic advances in the study of speech and language disordersAntibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan's syndrome and acquired neuromyotoniaAutism: Family connectionsMultiple rare variants in the etiology of autism spectrum disordersA common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autismGenetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10Current developments in the genetics of autism: from phenome to genomeCandidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine developmentGenetic Syndromes, Maternal Diseases and Antenatal Factors Associated with Autism Spectrum Disorders (ASD)Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders.Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder.Striatal Circuits as a Common Node for Autism PathophysiologyNew Therapeutic Options for Autism Spectrum Disorder: Experimental EvidencesBehavioral phenotypes of genetic mouse models of autism.Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum DisordersClinical and experimental studies of potentially pathogenic brain-directed autoantibodies: current knowledge and future directionsNeurogenomics of speech and language disorders: the road aheadCNVs: harbingers of a rare variant revolution in psychiatric geneticsDeveloping Medications Targeting Glutamatergic Dysfunction in Autism: Progress to DatePRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disordersGenetic aspects of autism spectrum disorders: insights from animal modelsAdvancing the understanding of autism disease mechanisms through geneticsDiagnostic methods and treatment options for focal cortical dysplasiaCommon mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disordersConnecting the CNTNAP2 Networks with Neurodevelopmental Disorders
P2860
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P2860
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
description
2006 nî lūn-bûn
@nan
2006 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մարտին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
@ast
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
@en
type
label
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
@ast
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
@en
prefLabel
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
@ast
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
@en
P2093
P3181
P356
P1476
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
@en
P2093
Gottlieb S
Huentelman MJ
Puffenberger EG
Stephan DA
Strauss KA
P304
P3181
P356
10.1056/NEJMOA052773
P407
P577
2006-03-30T00:00:00Z