Matthias De Wachter
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Explore the profile of Matthias De Wachter including associated specialties, affiliations and a list of published articles.
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8
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25
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Recent Articles
1.
De Wachter M, Millevert C, Nicolai J, Cats E, Kluger G, Milh M, et al.
Epilepsia
. 2025 Feb;
PMID: 39962862
Objective: Heterozygous gain-of-function (GOF) variants in KCNQ2 and KCNQ3, encoding the voltage-gated potassium channel subunits Kv7.2 and Kv7.3, lead to neurodevelopmental disorders for which no established treatments are available. Amitriptyline,...
2.
Smal N, Millevert C, De Wachter M, De Vriendt E, Eddafir Z, Schoonjans A, et al.
Epilepsia
. 2025 Jan;
PMID: 39878611
Objective: This study aims to improve genetic diagnosis in childhood onset epilepsy with neurodevelopmental problems by utilizing RNA sequencing of fibroblasts to identify pathogenic variants that may be missed by...
3.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, et al.
Genet Med
. 2024 Dec;
27(4):101347.
PMID: 39707840
Purpose: RORA encodes the RAR-related orphan receptor-α, playing a pivotal role in cerebellar maturation and function. Here, we report the largest series of individuals with RORA-related-neurodevelopmental disorder. Methods: Forty individuals...
4.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, et al.
Brain
. 2024 Mar;
147(8):2775-2790.
PMID: 38456468
Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP...
5.
Kassabian B, Levy A, Gardella E, Aledo-Serrano A, Ananth A, Brea-Fernandez A, et al.
Epilepsia
. 2023 Dec;
65(4):1029-1045.
PMID: 38135915
Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The...
6.
De Wachter M, Schoonjans A, Weckhuysen S, Van Schil K, Lofgren A, Meuwissen M, et al.
Eur J Paediatr Neurol
. 2023 Dec;
48:46-60.
PMID: 38039826
The implementation of whole exome sequencing (WES) has had a major impact on the diagnostic yield of genetic testing in individuals with epilepsy. The identification of a genetic etiology paves...
7.
Nissenkorn A, Kluger G, Schubert-Bast S, Bayat A, Bobylova M, Bonanni P, et al.
Epilepsia
. 2023 Feb;
64(4):866-874.
PMID: 36734057
Objective: Perampanel, an antiseizure drug with α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist properties, may have a targeted effect in genetic epilepsies with overwhelming glutamate receptor activation. Epilepsies with loss of γ-aminobutyric acid...
8.
Christensen M, Levy A, Mohammadi N, Niceta M, Kaiyrzhanov R, Dentici M, et al.
Clin Genet
. 2022 May;
102(2):98-109.
PMID: 35616059
Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from...
9.
Dhont A, De Wachter M, Driesen Y, Sabato V, Joos R, Ceulemans B
Neuropediatrics
. 2022 Apr;
53(5):366-369.
PMID: 35388438
Chorea is considered a nonthrombotic manifestation of the antiphospholipid syndrome, often preceding thrombotic events in children. It can be present in up to 5% of pediatric patients with antiphospholipid syndrome....
10.
Abo Y, Curtis N, Osowicki J, Haeusler G, Purcell R, Kadambari S, et al.
J Pediatric Infect Dis Soc
. 2021 Oct;
10(12):1087-1091.
PMID: 34608937
Paradoxical reactions in central nervous system tuberculosis (CNS-TB) are associated with significant morbidity and mortality. We describe 4 HIV-uninfected children treated for CNS-TB with severe paradoxical reactions unresponsive to corticosteroids....