ArticleEpilepsy research2009
Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14.
Article in Epilepsy research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Role ofFrontiers in molecular neuroscience · 2024Article
- Evaluation ofACS chemical neuroscience · 2023Article
- TRAK1-Mediated Abnormality of Mitochondrial Fission Increases Seizure Susceptibility in Temporal Lobe Epilepsy.Molecular neurobiology · 2021Article
- Phenotypic Characterization and Brain Structure Analysis of Calcium Channel Subunit αFrontiers in synaptic neuroscience · 2021Article
- Presynaptic αThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Hypertonia-linked protein Trak1 functions with mitofusins to promote mitochondrial tethering and fusion.Protein & cell · 2018Article
- MicroRNA-induced silencing in epilepsy: Opportunities and challenges for clinical application.Developmental dynamics : an official publication of the American Association of Anatomists · 2018Review
- Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.Brain : a journal of neurology · 2017Article
- The α2δ Subunit and Absence Epilepsy: Beyond Calcium Channels?Current neuropharmacology · 2017Review
- Emerging evidence for specific neuronal functions of auxiliary calcium channel α₂δ subunits.General physiology and biophysics · 2015Review
- Revisiting the TRAK family of proteins as mediators of GABAA receptor trafficking.Neurochemical research · 2014Review
- MicroRNA-128 governs neuronal excitability and motor behavior in mice.Science (New York, N.Y.) · 2013Article
- The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges.Molecular cytogenetics · 2013Article
- Genetics of epilepsy and relevance to current practice.Current neurology and neuroscience reports · 2012Review
- Advances in epilepsy genetics and genomics.Epilepsy currents · 2012Article
- Genome-wide linkage analysis of QTL for growth and body composition employing the PorcineSNP60 BeadChip.BMC genetics · 2012Article
- Renewed focus on the developing human neocortex.Journal of anatomy · 2010Review
Corrections and comments
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Authors and funding
23 authors at 18 institutions in 13 countries.
Funding
Abstract
Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean)=3.9, p<0.0001; HLOD=3.3, alpha=0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1.
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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.