ArticleNPJ genomic medicine2023
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.
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In one paragraph
Article in NPJ genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
4.4field-weighted citation impact, top 5% of its field
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.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- Transfer learning enhances clinical utility of polygenic scores with small, phenotypically refined cohorts.Genome research · 2026Article
- Deorphanisation and functional characterisation of OATP5A1 as transport protein for amino acids and vitamins.Cellular & molecular biology letters · 2026Article
- The SLC-ome of membrane transport: From molecular discovery to physiology and clinical applications.Physiological reviews · 2025Review
- Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.American journal of human genetics · 2025Article
- Genetic Animal Models of Idiopathic Generalized Epilepsies: What Can We Learn from Them?Biomedicines · 2025Review
- Organic anion transporting polypeptides: Pharmacology, toxicology, structure, and transport mechanisms.Pharmacological reviews · 2025Review
- Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis inAutophagy · 2025Article
- Loss-of-function of the Zinc Finger Homeobox 4 (medRxiv : the preprint server for health sciences · 2024Article
- Prenatal opioid exposure significantly impacts placental protein kinase C (PKC) and drug transporters, leading to drug resistance and neonatal opioid withdrawal syndrome.Frontiers in neuroscience · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
37 authors at 20 institutions in 9 countries.
Delnaz RoshandelGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.ORCID http://orcid.org/0000-0002-4902-8587
Eric J SandersGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.
Amy ShakeshaftDepartment of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0003-1412-5413
Naim PanjwaniGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.
Fan LinGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.
Amber CollingwoodDepartment of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Anna HallDepartment of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Katherine KeenanGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.
Celine DeneubourgDepartment of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Filippo MirabellaDepartment of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Simon ToppDepartment of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0002-5200-3284
Jana ZarubovaDepartment of Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.ORCID http://orcid.org/0000-0001-8437-8091
Rhys H ThomasNewcastle upon Tyne NHS Foundation Trust, Newcastle, UK.ORCID http://orcid.org/0000-0003-2062-8623
Inga TalvikTallin Children's Hospital, Tallin, Estonia.
Marte SyvertsenDepartment of Neurology, Drammen Hospital, Vestre Viken Health Trust, Oslo, Norway.
Pasquale StrianoIRCCS Istituto 'G. Gaslini', Genova, Italy.
Anna B SmithDepartment of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Kaja K SelmerDepartment of Research and Innovation, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, Norway.
Guido RubboliDanish Epilepsy Centre, Dianalund, Denmark.
Alessandro OrsiniPediatric Neurology, Azienda Ospedaliero-Universitaria Pisana, Pisa University Hospital, Pisa, Italy.
Ching Ching NgInstitute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.
Rikke S MøllerDanish Epilepsy Centre, Dianalund, Denmark.
Kheng Seang LimDivision of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.ORCID http://orcid.org/0000-0002-2787-2365
Khalid HamandiThe Welsh Epilepsy Unit, Department of Neurology Cardiff & Vale University Health Board, Cardiff, UK.
David A GreenbergNationwide Children's Hospital, Columbus, OH, USA.
Joanna GescheOdense University Hospital, Odense, Denmark.
Elena GardellaDanish Epilepsy Centre, Dianalund, Denmark.
Choong Yi FongDivision of Paediatric Neurology, Department of Pediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Christoph P BeierOdense University Hospital, Odense, Denmark.
Danielle M AndradeAdult Epilepsy Genetics Program, Krembil Research Institute, University of Toronto, Toronto, Canada.
Heinz JungbluthRandall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine, King's College London, London, UK.
Mark P RichardsonDepartment of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Annalisa PastoreDepartment of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Manolis FantoDepartment of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0001-7807-2563
Deb K PalDepartment of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK. deb.pal@kcl.ac.uk.ORCID http://orcid.org/0000-0003-2655-0564
Lisa J StrugGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada. Lisa.Strug@utoronto.ca.ORCID http://orcid.org/0000-0003-0503-9740
BIOJUME Consortium
University Hospitals Sussex NHS Foundation Trust · GBKing's College London · GBLeeds Teaching Hospitals NHS Trust · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GBNottingham University Hospitals NHS Trust · GBSheffield Teaching Hospitals NHS Foundation Trust · GBCalderdale and Huddersfield NHS Foundation Trust · GBMid Yorkshire Hospitals NHS Trust · GBSt George’s University Hospitals NHS Foundation Trust · GBEast Lancashire Hospitals NHS Trust · GBNHS Grampian · GBPortsmouth Hospitals NHS Trust · GBSwansea Bay University Health Board · GBUniversity Hospitals Birmingham NHS Foundation Trust · GBCharles University · CZCwm Taf University Health Board · GBHospital for Sick Children · CAKing's College Hospital · GBKingston Hospital · GBLancashire Teaching Hospitals NHS Foundation Trust · GB
Funding
Medical Research Council MR/K013998/1Medical Research Council MR/N026063/1Medical Research Council MR/W006251/1National Centre for the Replacement, Refinement and Reduction of Animals in Research NC/V001051/1
Abstract
Elevated impulsivity is a key component of attention-deficit hyperactivity disorder (ADHD), bipolar disorder and juvenile myoclonic epilepsy (JME). We performed a genome-wide association, colocalization, polygenic risk score, and pathway analysis of impulsivity in JME (n = 381). Results were followed up with functional characterisation using a drosophila model. We identified genome-wide associated SNPs at 8q13.3 (P = 7.5 × 10
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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.