Copy number variants are frequent in genetic generalized epilepsy with intellectual disability - Wikidata - wikimedia - TriplyDB

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

http://www.wikidata.org/entity/Q37463466

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Advancing epilepsy genetics in the genomic era CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.The 15q11.2 BP1-BP2 microdeletion syndrome: a review Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies Delivery of epilepsy care to adults with intellectual and developmental disabilities.Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects Seizures and epilepsy: an overview for neuroscientists "Idiopathic" and "genetic" generalized epilepsies intersect A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report.Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity.6q22.1 microdeletion and susceptibility to pediatric epilepsy.Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.CHD2 variants are a risk factor for photosensitivity in epilepsy 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 A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus.Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome.Genetic forms of epilepsies and other paroxysmal disorders Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes.Familial risk of epilepsy: a population-based study.When Should Genetic Testing Be Performed in Epilepsy Patients?The genetics of the epilepsies.Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.When the face says it all: dysmorphology in identifying syndromic causes of epilepsy.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.Copy number variants in absence epilepsy: Further complications of the picture.Genetic and epigenetic mechanisms of epilepsy: a review.Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.Copy Number Matters in Epilepsy.Clinical Genetic Testing in Epilepsy.Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.CNVs in Epilepsy.Epilepsy is not resolved.Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.

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Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

http://www.wikidata.org/entity/Q37463466

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scientific article published on 25 September 2013

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Copy number variants are frequ ...... y with intellectual disability

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Copy number variants are frequ ...... with intellectual disability.

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Copy number variants are frequ ...... y with intellectual disability

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Dennis Lal

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Gemma L Carvill

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Heather C Mefford

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Holger Trucks

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Saul A Mullen

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Thoman Sander

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P2860

Rare chromosomal deletions and duplications increase risk of schizophrenia

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Microduplications of 16p11.2 are associated with schizophrenia

Large recurrent microdeletions associated with schizophrenia

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

A genome-wide investigation of SNPs and CNVs in schizophrenia.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

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Ingrid Scheffer

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