World's Best Scientists 2026 revealed!
Sarah Weckhuysen

Sarah Weckhuysen

D-Index & Metrics

Neuroscience

D-Index
68
Citations
14376
World Ranking
2780
National Ranking
26

Overview

Sarah Weckhuysen is affiliated with the University of Antwerp in Belgium. Their research spans multiple fields with a primary focus on Biochemistry, Genetics, and Molecular Biology, comprising 153 publications. Medicine constitutes another major field with 85 publications.

Within these broader fields, their work addresses subfields such as Genetics (88 publications), Molecular Biology (57 publications), Psychiatry and Mental Health (30 publications), Cellular and Molecular Neuroscience (24 publications), and Cardiology and Cardiovascular Medicine (21 publications).

The main topics of their research include Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Epilepsy Research and Treatment, Ion Channel Regulation and Function, Neuroscience and Neuropharmacology Research, Cardiac Electrophysiology and Arrhythmias, and Genomic Variations and Chromosomal Abnormalities. These topics reflect an interdisciplinary approach integrating genetic studies with neurological and cardiovascular contexts.

They have published extensively in several high-profile venues. Frequent publication venues include:

  • Epilepsia
  • Brain
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Neurology
  • EBioMedicine

Recent notable papers by Sarah Weckhuysen include:

  • Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress, 2022, Epilepsia
  • Assessing the landscape of STXBP1-related disorders in 534 individuals, 2021, Brain
  • KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum, 2021, Brain
  • Biological concepts in human sodium channel epilepsies and their relevance in clinical practice, 2020, Epilepsia
  • Current practice in diagnostic genetic testing of the epilepsies, 2022, Epileptic Disorders

Frequent collaborators in their research include:

  • Rikke S. Møller
  • Ingrid E. Scheffer
  • Sanjay M. Sisodiya
  • Ingo Helbig
  • Hannah Stamberger

Sarah Weckhuysen has contributed to book publications, including a title published by Cambridge University Press:

  • KCNQ2- and KCNQ3-Associated Epilepsy, 2022

Their work connects genetics with clinical and molecular aspects of epilepsy and related neurological disorders, positioning them at the intersection of neuroscience, genetics, and medicine.

Best Publications

  • KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

    Sarah Weckhuysen;Simone Mandelstam;Arvid Suls;Dominique Audenaert;Dominique Audenaert

  • Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

    Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada

  • Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

    Johannes R Lemke;Dennis Lal;Eva M Reinthaler;Isabelle Steiner

  • De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié

  • STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy

    Hannah Stamberger;Marina Nikanorova;Marjolein H. Willemsen;Patrizia Accorsi

  • Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

    Sara Baldassari;Théo Ribierre;Elise Marsan;Homa Adle-Biassette

  • De novo variants in neurodevelopmental disorders with epilepsy.

    Henrike O. Heyne;Tarjinder Singh;Tarjinder Singh;Hannah Stamberger;Rami Abou Jamra

  • GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

    Gemma L Carvill;Sarah Weckhuysen;Sarah Weckhuysen;Jacinta M McMahon;Corinna Hartmann;Corinna Hartmann

  • The phenotypic spectrum of SCN8A encephalopathy

    Jan Larsen;Gemma L Carvill;Elena Gardella;Gerhard Kluger

  • Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy

    Gökce Orhan;Merle Bock;Dorien Schepers;Elena I. Ilina

  • Early and effective treatment of KCNQ2 encephalopathy

    Tiziana Pisano;Adam L. Numis;Sinéad B. Heavin;Sarah Weckhuysen

  • De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

    Arvid Suls;Johanna A. Jaehn;Angela Kecskés;Yvonne Weber

  • De novo mutations in HCN1 cause early infantile epileptic encephalopathy

    Caroline Nava;Carine Dalle;Agnès Rastetter;Pasquale Striano

  • GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.

    Johannes R Lemke;Rik Hendrickx;Kirsten Geider;Bodo Laube

  • Extending the KCNQ2 encephalopathy spectrum Clinical and neuroimaging findings in 17 patients

    S Weckhuysen;Ivanovic;R Hendrickx;Van, Coster, R

  • Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

    Gemma L. Carvill;Jacinta M. McMahon;Amy Schneider;Matthew Zemel

  • GRIN2A-related disorders : genotype and functional consequence predict phenotype

    Vincent Strehlow;Henrike O Heyne;Henrike O Heyne;Henrike O Heyne;Danique R M Vlaskamp;Katie F M Marwick

  • The landscape of epilepsy-related GATOR1 variants

    Sara Baldassari;Fabienne Picard;Nienke E. Verbeek;Marjan van Kempen

  • Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

    Julian Schubert;Aleksandra Siekierska;Mélanie Langlois;Patrick May

  • KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

    John J. Millichap;Kristen L. Park;Tammy Tsuchida;Bruria Ben-Zeev

  • Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

    Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

Frequent Co-Authors

Ingo Helbig
Ingo Helbig Children's Hospital of Philadelphia
Rikke S. Møller
Rikke S. Møller University of Southern Denmark
Peter De Jonghe
Peter De Jonghe University of Antwerp
Pasquale Striano
Pasquale Striano University of Genoa
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Renzo Guerrini
Renzo Guerrini University of Florence
Yvonne G. Weber
Yvonne G. Weber University of Tübingen
Aarno Palotie
Aarno Palotie University of Helsinki
Bobby P.C. Koeleman
Bobby P.C. Koeleman Utrecht University
Gaetan Lesca
Gaetan Lesca Claude Bernard University Lyon 1

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