Rare copy number variants are an important cause of epileptic encephalopathies. - Wikidata - awgldk - TriplyDB

Rare copy number variants are an important cause of epileptic encephalopathies.

Rare copy number variants are an important cause of epileptic encephalopathies.

http://www.wikidata.org/entity/Q35632675

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Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice Advancing epilepsy genetics in the genomic era Epileptic encephalopathies: new genes and new pathways Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion The hidden genetics of epilepsy-a clinically important new paradigm.Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum 6q22.1 microdeletion and susceptibility to pediatric epilepsy.Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability Copy number variants, aneuploidies, and human disease Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.Autism spectrum disorder and epilepsy: Disorders with a shared biology.The genetics of microdeletion and microduplication syndromes: an update.Copy number variation plays an important role in clinical epilepsy.Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy Epi4K: gene discovery in 4,000 genomes.Advances in epilepsy genetics and genomics.A roadmap for precision medicine in the epilepsies.Genetics of hereditary neurological disorders in children Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation Genetic forms of epilepsies and other paroxysmal disorders Continuous Spikes and Waves during Sleep: Electroclinical Presentation and Suggestions for Management.De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.Copy number variants are frequent in genetic generalized epilepsy with intellectual disability When Should Genetic Testing Be Performed in Epilepsy Patients?Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES).GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.New genes for focal epilepsies with speech and language disorders.The genetics of the epilepsies.Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications.Lessons learned from gene identification studies in Mendelian epilepsy disorders.

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P2860

Rare copy number variants are an important cause of epileptic encephalopathies.

http://www.wikidata.org/entity/Q35632675

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2011年の論文

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2011年論文

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2011年论文

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2011年论文

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2011年论文

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name

Rare copy number variants are an important cause of epileptic encephalopathies.

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Rare copy number variants are an important cause of epileptic encephalopathies.

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type

label

Rare copy number variants are an important cause of epileptic encephalopathies.

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Rare copy number variants are an important cause of epileptic encephalopathies.

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prefLabel

Rare copy number variants are an important cause of epileptic encephalopathies.

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Rare copy number variants are an important cause of epileptic encephalopathies.

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P1433

Annals of Neurology

P1476

Rare copy number variants are an important cause of epileptic encephalopathies.

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P2093

Bruria Ben-Zeev

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Cynthia Hsu

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Eileen Geraghty

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Eva Andermann

http://www.w3.org/2001/XMLSchema#string

Evan E Eichler

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Geoffrey Wallace

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Heather C Mefford

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Ian Andrews

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James T Pelakanos

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Jeremy L Freeman

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P2860

Rare chromosomal deletions and duplications increase risk of schizophrenia

A third synaptotagmin gene, Syt3, in the mouse

Large, rare chromosomal deletions associated with severe early-onset obesity

Microduplications of 16p11.2 are associated with schizophrenia

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

Large recurrent microdeletions associated with schizophrenia

Calmodulin suppresses synaptotagmin-2 transcription in cortical neurons

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

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974-985

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scholarly article

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10.1002/ANA.22645

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6

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70

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Ingrid Scheffer

Tally Lerman-Sagie

Jacinta M McMahon

Samuel Berkovic

P577

2011-12-01T00:00:00Z

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51906195

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22190369

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3245646

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