Sarah Weckhuysen

Associate Professor

University of Antwerp

Belgium

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Articles (16)

Year:

2024

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2024

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2024

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2024

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2024

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2023

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2023

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2023

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2023

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2023

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2023

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2023

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2023

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2023

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2023

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2022

Collaborators (22)

Claire-Sophie Davoine

Institut du Cerveau et de la Moelle Épinière

FRANCE

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Vincent Timmerman

University of Antwerp

BELGIUM

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Ludger Schöls

Section head

Eberhard Karls Universität Tübingen

GERMANY

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Sandrine PASSEMARD

Université Paris Cité

FRANCE

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Jonathan Baets

University of Antwerp

BELGIUM

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Gianpiero Cavalleri

Professor of Human Genetics

IRELAND

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Ravishankara Bellampalli

University College London

UNITED KINGDOM

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Caroline Cusick

Broad Institute

UNITED STATES

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Laura Pölsler

Vrije Universiteit Brussel

BELGIUM

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Giovanni Stevanin

Directeur d'Etudes Cumulant (Professor)

École Pratique des Hautes Études

FRANCE

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Marek Turnovec

University Hospital in Motol

CZECH REPUBLIC

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Toshimitsu Suzuki

Lecturer

Nagoya University

JAPAN

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Manuel Posada

Senior Research Full Professor, Rare Diseases Research Institute, ISCIII

Instituto de Salud Carlos III

SPAIN

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Shekeeb S. Mohammad

AUSTRALIA

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Mridul Johari

University of Helsinki

FINLAND

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Ingrid Scheffer

University of Melbourne

AUSTRALIA

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Kazuhiro Yamakawa

Professor

Nagoya University

JAPAN

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Massimiliano Rossi

Université Claude Bernard Lyon 1

FRANCE

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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Yves Sznajer

Head and Coordinator

Cliniques Universitaires Saint-Luc

BELGIUM

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Gisèle Bonne

INSERM

FRANCE

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Camila Esguerra

NORWAY

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Sarah Weckhuysen

Research Interests

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Articles (16)

Developmental epileptic encephalopathy in DLG4-related synaptopathy

Drug resistant epilepsy and associated factors among children with epilepsies in tanzania

From diagnosis to treatment in genetic epilepsies

GABRA1‐related disorders

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A

Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids.

Hot water epilepsy: A case report of a sporadic form of reflex epilepsy.

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

Case report: Functional analysis of the p.Arg507Trp variant of the <i>PIGT</i> gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.

ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy.

Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> Encephalopathy.

Resting-State Functional MRI and PET Imaging as Noninvasive Tools to Study (Ab)Normal Neurodevelopment in Humans and Rodents

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Collaborators (22)

Claire-Sophie Davoine

Vincent Timmerman

Ludger Schöls

Sandrine PASSEMARD

Jonathan Baets

Gianpiero Cavalleri

Ravishankara Bellampalli

Caroline Cusick

Laura Pölsler

Giovanni Stevanin

Marek Turnovec

Toshimitsu Suzuki

Manuel Posada

Shekeeb S. Mohammad

Mridul Johari

Ingrid Scheffer

Kazuhiro Yamakawa

Massimiliano Rossi

Siddharth Banka

Yves Sznajer

Gisèle Bonne

Camila Esguerra

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