ReviewEpilepsia2011
Epilepsy and the new cytogenetics.
Review in Epilepsia, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 67 citations in OpenAlex.
- Exploration on the potential efficacy and mechanism of methyl salicylate glycosides in the treatment of schizophrenia based on bioinformatics, molecular docking and dynamics simulation.Schizophrenia (Heidelberg, Germany) · 2024Article
- Neuroinflammatory Dysfunction of the Blood-Brain Barrier and Basement Membrane Dysplasia Play a Role in the Development of Drug-Resistant Epilepsy.International journal of molecular sciences · 2023Article
- Cytogenomic epileptology.Molecular cytogenetics · 2023Review
- Article
- GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.Neurobiology of disease · 2017Article
- The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Molecular diagnosis & therapy · 2017Review
- Temperature-dependent changes in neuronal dynamics in a patient with an SCN1A mutation and hyperthermia induced seizures.Scientific reports · 2016Article
- Epileptic syndromes: From clinic to genetic.Iranian journal of neurology · 2015Review
- Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum.Developmental medicine and child neurology · 2014Article
- Refractory epilepsy in children.Indian journal of pediatrics · 2014Review
- WONOEP appraisal: new genetic approaches to study epilepsy.Epilepsia · 2014Review
- The hidden genetics of epilepsy-a clinically important new paradigm.Nature reviews. Neurology · 2014Review
- Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.Genes, brain, and behavior · 2014Article
- Integrative biological analysis for neuropsychopharmacology.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2014Review
- NINDS epilepsy and autism spectrum disorders workshop report.Neurology · 2013Review
- De novo mutations in epileptic encephalopathies.Nature · 2013Article
- Advances in epilepsy genetics and genomics.Epilepsy currents · 2012Article
- Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities.European journal of medical genetics · 2012Article
- Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies.The Lancet. Neurology · 2012Review
- From genetics to genomics of epilepsy.Neurology research international · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
We set out to review the extent to which molecular karyotyping has overtaken conventional cytogenetics in applications related to epilepsy. Multiplex ligase-dependent probe amplification (MLPA) targeted to predetermined regions such as SCN1A and KCNQ2 has been effectively applied over the last half a decade, and oligonucleotide array comparative genome hybridization (array CGH) is now well established for genome-wide exploration of microchromosomal variation. Array CGH is applicable to the characterization of lesions present in both sporadic and familial epilepsy, especially where clinical features of affected cases depart from established syndromes. Copy number variants (CNVs) associated with epilepsy and a range of other syndromes and conditions can be recurrent due to nonallelic homologous recombination in regions of segmental duplication. The most common of the recurrent microdeletions associated with generalized epilepsy are typically seen at a frequency of ∼ 1% at 15q13.3, 16p13.11, and 15q11.2, sites that also confer susceptibility for intellectual disability, autism, and schizophrenia. Incomplete penetrance and variable expressivity confound the established rules of cytogenetics for determining the pathogenicity for novel CNVs; however, as knowledge is gained for each of the recurrent CNVs, this is translated to genetic counseling. CNVs play a significant role in the susceptibility profile for epilepsies, with complex genetics and their comorbidities both from the "hotspots" defined by segmental duplication and elsewhere in the genome where their location and size are often novel.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.