Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
about
Human genetics and genomics a decade after the release of the draft sequence of the human genomeExpanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Genetic advances in the study of speech and language disordersThe neurology of autism spectrum disordersExome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsyCandidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine developmentAdvancing epilepsy genetics in the genomic eraFollowing the genes: a framework for animal modeling of psychiatric disordersA genetic model for neurodevelopmental diseaseEpilepsy in Muenke syndrome: FGFR3-related craniosynostosisNINDS epilepsy and autism spectrum disorders workshop reportUncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletionsFunction and regulation of AUTS2, a gene implicated in autism and human evolutionEpileptic syndromes: From clinic to geneticConnecting the CNTNAP2 Networks with Neurodevelopmental DisordersThe clustering of functionally related genes contributes to CNV-mediated diseaseHomozygous PLCB1 deletion associated with malignant migrating partial seizures in infancyDUF1220 copy number is associated with schizophrenia risk and severity: implications for understanding autism and schizophrenia as related diseasesCommon variants of KCNJ10 are associated with susceptibility and anti-epileptic drug resistance in Chinese genetic generalized epilepsiesBurden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesShining a light on CNTNAP2: complex functions to complex disorders.Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorderIndividual common variants exert weak effects on the risk for autism spectrum disordersGenome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome.The Correlation-Base-Selection Algorithm for Diagnostic Schizophrenia Based on Blood-Based Gene Expression SignaturesHeterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive MemoryIncreased de novo copy number variants in the offspring of older malesAutosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairmentNeuronal Migration and AUTS2 Syndrome.Structural genomic variation in childhood epilepsies with complex phenotypesEpilepsy genetics--past, present, and futureGenetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.Transcriptional dysregulation of neocortical circuit assembly in ASDGenomics, intellectual disability, and autismRecurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.Genetic architectures of psychiatric disorders: the emerging picture and its implications.
P2860
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P2860
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
description
2010 nî lūn-bûn
@nan
2010 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մայիսին հրատարակված գիտական հոդված
@hy
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
name
Genome-wide copy number variat ...... neralized and focal epilepsies
@ast
Genome-wide copy number variat ...... neralized and focal epilepsies
@en
Genome-wide copy number variat ...... eralized and focal epilepsies.
@nl
type
label
Genome-wide copy number variat ...... neralized and focal epilepsies
@ast
Genome-wide copy number variat ...... neralized and focal epilepsies
@en
Genome-wide copy number variat ...... eralized and focal epilepsies.
@nl
prefLabel
Genome-wide copy number variat ...... neralized and focal epilepsies
@ast
Genome-wide copy number variat ...... neralized and focal epilepsies
@en
Genome-wide copy number variat ...... eralized and focal epilepsies.
@nl
P2093
P2860
P1433
P1476
Genome-wide copy number variat ...... neralized and focal epilepsies
@en
P2093
Alain Malafosse
Alexander G Bassuk
Andre Franke
Carl Baker
Christina A Gurnett
Evan E Eichler
Heather C Mefford
Hiltrud Muhle
Ingo Helbig
Karen Buysse
P2860
P304
P356
10.1371/JOURNAL.PGEN.1000962
P577
2010-05-20T00:00:00Z