Trial reportAnnals of neurology2017
Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.
Trial report in Annals of neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
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
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents.The Cochrane database of systematic reviews · 2021Pooled it
- Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents.The Cochrane database of systematic reviews · 2019Pooled it
- Pretreatment seizure semiology in childhood absence epilepsy.Neurology · 2017Trial
- Genetic Animal Models of Idiopathic Generalized Epilepsies: What Can We Learn from Them?Biomedicines · 2025Review
- Prediction of Pharmacoresistance in Drug-Naïve Temporal Lobe Epilepsy Using Ictal EEGs Based on Convolutional Neural Network.Neuroscience bulletin · 2025Article
- Advancements in Surgical Therapies for Drug-Resistant Epilepsy: A Paradigm Shift towards Precision Care.Neurology and therapy · 2025Review
- Modelling the effect of allopregnanolone on the resolution of spike-wave discharges.Journal of computational neuroscience · 2025Article
- Molecular Mechanisms Underlying the Generation of Absence Seizures: Identification of Potential Targets for Therapeutic Intervention.International journal of molecular sciences · 2024Review
- Assessment of clinically actionable pharmacogenetic markers to stratify anti-seizure medications.The pharmacogenomics journal · 2023Article
- Polymorphisms in the Drug Transporter GeneBiomedicines · 2023Article
- Suppression of seizure in childhood absence epilepsy using robust control of deep brain stimulation: a simulation study.Scientific reports · 2023Article
- Inactivation of CACNA1H induces cell apoptosis by initiating endoplasmic reticulum stress in glioma.Translational neuroscience · 2023Article
- Overexpression of Homer1b/c induces valproic acid resistance in epilepsy.CNS neuroscience & therapeutics · 2023Article
- Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures.Pediatric research · 2022Article
- The inhibition mechanism of epilepsy disease in a computational model.Technology and health care : official journal of the European Society for Engineering and Medicine · 2022Article
- Therapeutic Options for Childhood Absence Epilepsy.Pediatric reports · 2021Review
- Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy.Annals of clinical and translational neurology · 2021Article
- Pretreatment Source Location and Functional Connectivity Network Correlated With Therapy Response in Childhood Absence Epilepsy: A Magnetoencephalography Study.Frontiers in neurology · 2021Article
- Absence Seizures in Children: Usual and the Unusual.Indian journal of pediatrics · 2020Review
- Idiopathic (genetic) generalized epilepsies with absences: clinical and electrographic characteristics and seizure outcome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 1 country.
Funding
Abstract
objectiveTo determine whether common polymorphisms in CACNA1G, CACNA1H, CACNA1I, and ABCB1 are associated with differential short-term seizure outcome in childhood absence epilepsy (CAE).
methodsFour hundred forty-six CAE children in a randomized double-blind trial of ethosuximide, lamotrigine, and valproate had short-term seizure outcome determined. Associations between polymorphisms (minor allele frequency ≥ 15%) in 4 genes and seizure outcomes were assessed. In vitro electrophysiology on transfected CACNA1H channels determined impact of 1 variant on T-type calcium channel responsiveness to ethosuximide.
resultsEighty percent (357 of 446) of subjects had informative short-term seizure status (242 seizure free, 115 not seizure free). In ethosuximide subjects, 2 polymorphisms (CACNA1H rs61734410/P640L, CACNA1I rs3747178) appeared more commonly among not-seizure-free participants (p = 0.011, odds ratio [OR] = 2.63, 95% confidence limits [CL] = 1.25-5.56; p = 0.026, OR = 2.38, 95% CL = 1.11-5.00). In lamotrigine subjects, 1 ABCB1 missense polymorphism (rs2032582/S893A; p = 0.015, OR = 2.22, 95% CL = 1.16-4.17) was more common in not-seizure-free participants, and 2 CACNA1H polymorphisms (rs2753326, rs2753325) were more common in seizure-free participants (p = 0.038, OR = 0.52, 95% CL = 0.28-0.96). In valproate subjects, no common polymorphisms were associated with seizure status. In vitro electrophysiological studies showed no effect of the P640L polymorphism on channel physiology in the absence of ethosuximide. Ethosuximide's effect on rate of decay of Ca
interpretationFour T-type calcium channel variants and 1 ABCB1 transporter variant were associated with differential drug response in CAE. The in vivo P640L variant's ethosuximide effect was confirmed by in vitro electrophysiological studies. This suggests that genetic variation plays a role in differential CAE drug response. Ann Neurol 2017;81:444-453.
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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.