ReviewSeminars in neurology2014
Genetic forms of epilepsies and other paroxysmal disorders.
Review in Seminars in neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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
9 citing papers in PubMed, 21 citations in OpenAlex.
- Multimodal Characterization of Seizures in Zebrafish Larvae.Biomedicines · 2022Article
- Characterization of the GABRB2-Associated Neurodevelopmental Disorders.Annals of neurology · 2021Article
- Optical mapping of neuronal activity during seizures in zebrafish.Scientific reports · 2017Article
- Kainic Acid Induces mTORC1-Dependent Expression of Elmo1 in Hippocampal Neurons.Molecular neurobiology · 2017Article
- Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.Annals of neurology · 2017Article
- Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.Journal of neurodevelopmental disorders · 2017Review
- BRAT1 mutations present with a spectrum of clinical severity.American journal of medical genetics. Part A · 2016Review
- Attitudes Toward Epilepsy Genetics Testing Among Adult and Pediatric Epileptologists-Results of a Q-PULSE Survey.Epilepsy currentsArticle
- Emerging roles of Na⁺/H⁺ exchangers in epilepsy and developmental brain disorders.Progress in neurobiologyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Genetic mechanisms explain the pathophysiology of many forms of epilepsy and other paroxysmal disorders, such as alternating hemiplegia of childhood, familial hemiplegic migraine, and paroxysmal dyskinesias. Epilepsy is a key feature of well-defined genetic syndromes including tuberous sclerosis complex, Rett syndrome, Angelman syndrome, and others. There is an increasing number of single-gene causes or susceptibility factors associated with several epilepsy syndromes, including the early-onset epileptic encephalopathies, benign neonatal/infantile seizures, progressive myoclonus epilepsies, genetic generalized and benign focal epilepsies, epileptic aphasias, and familial focal epilepsies. Molecular mechanisms are diverse, and a single gene can be associated with a broad range of phenotypes. Additional features, such as dysmorphisms, head size, movement disorders, and family history may provide clues to a genetic diagnosis. Genetic testing can impact medical care and counseling. We discuss genetic mechanisms of epilepsy and other paroxysmal disorders, tools and indications for genetic testing, known genotype-phenotype associations, the importance of genetic counseling, and a look toward the future of epilepsy genetics.
Indexed as
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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.