ReviewCurrent opinion in neurology2013
Genetics of the epilepsies: where are we and where are we going?
Review in Current opinion in neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.
- Pooled it
- Early death and neuronal abnormalities inbioRxiv : the preprint server for biology · 2025Article
- Epileptic seizure biophysics: the role of local voltage difference.Military Medical Research · 2025Article
- A Comprehensive Overview of the Current Status and Advancements in Various Treatment Strategies against Epilepsy.ACS pharmacology & translational science · 2024Review
- Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea.Biomedicines · 2024Article
- Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability.iScience · 2024Article
- Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability.bioRxiv : the preprint server for biology · 2024Article
- Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.JAMA network open · 2023Article
- HLA-B*1502 is associated with aromatic anticonvulsant drug-induced cutaneous adverse drug reactions among the Hakka population in China.The Journal of international medical research · 2020Article
- Profiling of differentially expressed circular RNAs in peripheral blood mononuclear cells from Alzheimer's disease patients.Metabolic brain disease · 2020Article
- Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.American journal of human genetics · 2019Article
- Astroglial role in the pathophysiology of statusOncotarget · 2018Review
- Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel.Korean journal of pediatrics · 2018Review
- HRPU-2, a Homolog of Mammalian hnRNP U, Regulates Synaptic Transmission by Controlling the Expression of SLO-2 Potassium Channel inThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- A Model Program for Translational Medicine in Epilepsy Genetics.Journal of child neurology · 2017Article
- Synaptic ZnBritish journal of pharmacology · 2017Review
- Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.European journal of human genetics : EJHG · 2016Article
- A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.Annals of neurology · 2016Article
- Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.American journal of human genetics · 2016Article
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
purpose of reviewWe aim to review the most recent advances in the field of epilepsy genetics with particular focus on the progress in gene discovery in monogenic epilepsies, identification of risk genes in complex genetic epilepsies and recent findings in the field of epilepsy pharmacogenomics. RECENT
findingsDuring the last 12 months, the use of massive parallel sequencing technologies has allowed for the discovery of several genes for monogenic epilepsies. Most importantly, PRRT2 was identified as the long-sought gene for benign familial infantile seizures. Mutations in KCNT1 were found in two seemingly unrelated monogenic epilepsies including malignant migrating partial seizures of infancy and severe autosomal dominant nocturnal frontal lobe epilepsy. A genome-wide association study in idiopathic generalized epilepsy revealed the first common risk variants for human seizure disorders including variants in VRK2, PNPO and SCN1A. Furthermore, a landmark study provided evidence that screening for the HLA-B1502 variant may prevent carbamazepine CBZ-induced side effects in the Taiwanese population. Also, HLA-A3101 variants were identified as a risk factor for carbamazepine side effects in Europeans. SUMMARY: Novel technologies and an unprecedented level of international collaboration have resulted in identification of novel genes for monogenic and complex genetic epilepsies as well as risk factors for side effects of antiepileptic drugs. This review provides an overview of the most relevant studies in the last year and highlights the future direction of the field.
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.