Matthias De Wachter

Edegem, VLG, Belgium

Last Updated: 09/26/2026

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Found 15 publications

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

Journal: European journal of human genetics : EJHG

Published: December 09, 2025

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Journal: HGG advances

Published: November 26, 2025

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Journal: Epilepsia

Published: October 02, 2025

Precision medicine in epilepsy: Clinicians' perspectives from an international qualitative study.

Precision medicine in epilepsy: Clinicians' perspectives from an international qualitative study.

Journal: Epilepsia

Published: April 01, 2025

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Journal: European journal of human genetics : EJHG

Published: March 04, 2025

Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy.

Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy.

Journal: Epilepsia

Published: November 01, 2024

Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study.

Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study.

Journal: Epilepsia

Published: October 22, 2024

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 28, 2024

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Journal: Epilepsia

Published: October 13, 2023

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

Journal: Brain : a journal of neurology

Published: October 06, 2023

From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.

From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: September 30, 2022

Perampanel as precision therapy in rare genetic epilepsies.

Perampanel as precision therapy in rare genetic epilepsies.

Journal: Epilepsia

Published: September 29, 2022

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Last Updated: 09/26/2026