ArticleNature genetics2014
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
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Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers.
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103citing papers in PubMed
8.3field-weighted citation impact, top 2% of its field
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Who cites it
103 citing papers in PubMed, 197 citations in OpenAlex.
- STX1B variant-specific synaptic dysfunction is associated with network hyperexcitability in human iPSC-derived neurons.EBioMedicine · 2026Article
- Comprehensive transcriptomics comparison reveals switch of gene networks in the brain during silkworm domestication.Insect science · 2026Article
- STXBP1 Variants Associated With Epilepsy With Variable Severity.CNS neuroscience & therapeutics · 2026Article
- Zebrafish models of developmental epileptic encephalopathy accurately reflect clinical electrographic biomarkers.Epilepsia · 2026Article
- A PIP2-stabilized syntaxin-1a structure mapped with transition metal ion FRET and unnatural fluorescent amino acids at the plasma membrane.Structure (London, England : 1993) · 2026Article
- Diverse species of animal models in epilepsy research: Progress and perspectives.Zoological research · 2025Review
- A genome-wide association study identified 10 novel genomic loci associated with intrinsic capacity.The journals of gerontology. Series A, Biological sciences and medical sciences · 2025Article
- Identification of mutations in five Pakistani families with Epilepsy.Neurogenetics · 2025Article
- Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies.Biomolecules · 2025Review
- RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis.Molecular genetics & genomic medicine · 2025Article
- Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity inBiological psychiatry global open science · 2024Article
- STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy.International journal of molecular sciences · 2023Article
- Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder.European journal of human genetics : EJHG · 2023Article
- Treating Epilepsy with Natural Products: Nonsense or Possibility?Pharmaceuticals (Basel, Switzerland) · 2023Review
- Syntabulin regulates neuronal excitation/inhibition balance and epileptic seizures by transporting syntaxin 1B.Cell death discovery · 2023Article
- Zebrafish as an Innovative Tool for Epilepsy Modeling: State of the Art and Potential Future Directions.International journal of molecular sciences · 2023Review
- Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.European journal of human genetics : EJHG · 2023Article
- Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures.International journal of molecular sciences · 2023Review
- Augmented impulsive behavior in febrile seizure-induced mice.Toxicological research · 2023Article
- Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.Frontiers in pediatrics · 2023Article
43 more citing papers are in PubMed but not listed here.
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Authors and funding
48 authors at 19 institutions in 9 countries.
Julian SchubertDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Aleksandra SiekierskaLaboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium.
Mélanie LangloisLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Patrick May1] Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg. [2] Institute for Systems Biology, Seattle, Washington, USA.ORCID 0000000186983770
Clément Huneau1] INSERM, U1099, Rennes, France. [2] Université de Rennes 1, Laboratoire Traitement du Signal et de l'Image (LTSI), Rennes, France.
Felicitas BeckerDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Hiltrud MuhleDepartment of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany.
Arvid Suls1] Neurogenetics Group, VIB Department of Molecular Genetics, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Johannes R Lemke1] Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland. [2] Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany.
Carolien G F de KovelSection of Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.ORCID 0000000278181396
Holger ThieleCologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Kathryn KonradCologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Amit KawaliaCologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Mohammad R ToliatCologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Thomas SanderCologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Franz RüschendorfMax Delbrück Centre for Molecular Medicine, Berlin, Germany.
Almuth CaliebeInstitute of Human Genetics, Christian Albrechts University and University Hospital Schleswig-Holstein, Kiel, Germany.
Inga NagelInstitute of Human Genetics, Christian Albrechts University and University Hospital Schleswig-Holstein, Kiel, Germany.
Bernard KohlKinderkrankenhaus Wilhelmstift, Rahlstedt, Germany.
Angela KecskésLaboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium.
Maxime JacminLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Katia Hardies1] Neurogenetics Group, VIB Department of Molecular Genetics, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Sarah Weckhuysen1] Neurogenetics Group, VIB Department of Molecular Genetics, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Erik Riesch1] Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland. [2] CeGaT, Tübingen, Germany. [3] Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Thomas DornSwiss Epilepsy Centre, Zurich, Switzerland.
Eva H BrilstraSection of Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Stephanie Baulac1] INSERM U1127, Centre National de la Recherche Scientifique (CNRS) UMR 7225, Sorbonne Universités, Université Pierre et Marie Curie (UMPC) Université Paris 06 UMRS 1127, Paris, France. [2] Institut du Cerveau et de la Moelle Epinière (ICM), Paris, France.ORCID 0000000164304693
Rikke S Møller1] Danish Epilepsy Centre, Dianalund, Denmark. [2] Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Helle Hjalgrim1] Danish Epilepsy Centre, Dianalund, Denmark. [2] Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Bobby P C KoelemanSection of Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
EuroEPINOMICS RES Consortium
Karin Jurkat-RottDivision of Neurophysiology, University of Ulm, Ulm, Germany.
Frank Lehman-HornDivision of Neurophysiology, University of Ulm, Ulm, Germany.
Jared C RoachInstitute for Systems Biology, Seattle, Washington, USA.
Gustavo GlusmanInstitute for Systems Biology, Seattle, Washington, USA.
Leroy HoodInstitute for Systems Biology, Seattle, Washington, USA.
David J Galas1] Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg. [2] Institute for Systems Biology, Seattle, Washington, USA. [3] Pacific Northwest Diabetes Research Institute, Seattle, Washington, USA.
Benoit Martin1] INSERM, U1099, Rennes, France. [2] Université de Rennes 1, Laboratoire Traitement du Signal et de l'Image (LTSI), Rennes, France.
Peter A M de WitteLaboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium.
Saskia Biskup1] CeGaT, Tübingen, Germany. [2] Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Peter De Jonghe1] Neurogenetics Group, VIB Department of Molecular Genetics, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Ingo HelbigDepartment of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany.
Rudi BallingLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Peter Nürnberg1] Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany. [2] Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. [3] Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
Alexander D Crawford1] Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium. [2] Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Camila V Esguerra1] Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium. [2] Present address: Chemical Neuroscience Group, Biotechnology Centre of Oslo, University of Oslo, Oslo, Norway.
Yvonne G WeberDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Holger LercheDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
University of Cologne · DEUniversity of Luxembourg · LUChristian-Albrechts-Universität zu Kiel · DEHertie Institute for Clinical Brain Research · DEInstitute for Systems Biology · USKU Leuven · BEUtrecht University · NLVIB-UAntwerp Center for Molecular Neurology · BEInserm · FRUniversität Ulm · DEUniversity Hospital of Bern · CHUniversity of Southern Denmark · DKCeGaT (Germany) · DECentre National de la Recherche Scientifique · FRKatholisches Kinderkrankenhaus Wilhelmstift · DEMax Delbrück Center · DESwiss Epilepsy Center · CHUniversity of Antwerp · BEUniversity of Oslo · NO
Funding
Quantitative Systems BiologyP50GM076547 · NIGMS · INSTITUTE FOR SYSTEMS BIOLOGY · PI BALIGA, NITIN S · 2006 to 2016
$30.6MNIGMS NIH HHS GM076547
Abstract
Febrile seizures affect 2-4% of all children and have a strong genetic component. Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy. Here we report the identification of mutations in STX1B, encoding syntaxin-1B, that are associated with both febrile seizures and epilepsy. Whole-exome sequencing in independent large pedigrees identified cosegregating STX1B mutations predicted to cause an early truncation or an in-frame insertion or deletion. Three additional nonsense or missense mutations and a de novo microdeletion encompassing STX1B were then identified in 449 familial or sporadic cases. Video and local field potential analyses of zebrafish larvae with antisense knockdown of stx1b showed seizure-like behavior and epileptiform discharges that were highly sensitive to increased temperature. Wild-type human syntaxin-1B but not a mutated protein rescued the effects of stx1b knockdown in zebrafish. Our results thus implicate STX1B and the presynaptic release machinery in fever-associated epilepsy syndromes.
Indexed as
MutationAmino Acid SequenceAnimalsCodon, NonsenseCohort StudiesComparative Genomic HybridizationEpilepsyExomeFemaleGene DeletionGenetic LinkageHumansIn Situ Hybridization, FluorescenceMaleMolecular Sequence DataPedigreeCodon, NonsenseSyntaxin 1
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