A5064974637- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Cellular transport and secretion
- Pharmacological Effects and Toxicity Studies
- Amino Acid Enzymes and Metabolism
- Neonatal and fetal brain pathology
- Cystic Fibrosis Research Advances
- Peptidase Inhibition and Analysis
- Cardiac electrophysiology and arrhythmias
- RNA modifications and cancer
- Genomics and Phylogenetic Studies
- RNA and protein synthesis mechanisms
- Autism Spectrum Disorder Research
- Ion channel regulation and function
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Glycosylation and Glycoproteins Research
University Medical Center Utrecht
2023
University Medical Center Groningen
2014-2022
University of Groningen
2016-2022
Austin Health
2018-2020
The University of Melbourne
2018-2020
Dialyse Centrum Groningen
2020
Florey Institute of Neuroscience and Mental Health
2018
Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by GRIN2A, have been associated with a spectrum neurodevelopmental disorders prominent speech-related features, and epilepsy. We performed comprehensive assessment phenotypes standardized questionnaire in 92 previously unreported individuals GRIN2A-related disorders. Applying criteria American College Medical Genetics Genomics to all published variants yielded 156 additional cases pathogenic or likely resulting...
To delineate the epileptology, a key part of
In SCN2A-related disorders, there is an urgent demand to establish efficient methods for determining the gain- (GoF) or loss-of-function (LoF) character of variants, identify suitable candidates precision therapies. Here we classify clinical phenotypes 179 individuals with 38 recurrent SCN2A variants as early-infantile later-onset epilepsy, intellectual disability/autism spectrum disorder (ID/ASD) and assess functional impact 13 using dynamic action potential clamp (DAPC) voltage clamp....
Summary Objective To investigate the occurrence of psychosis and serious behavioral problems in females with protocadherin 19 gene ( PCDH19 ) pathogenic variants. Methods We evaluated whether had occurred 60 (age 2‐75 years) PCDH variants belonging to 35 families. Patients were identified from epilepsy genetics databases Australia, New Zealand, United States, Canada. Neurologic psychiatric disorders diagnosed using standard methods. Results Eight (13%) 7 families developed a psychotic...
The aim of this study was to describe the epilepsy phenotype in a large international cohort patients with KBG syndrome and possible genotype-phenotype correlation.We collected data on ANKRD11 variants by contacting University Medical Centers Netherlands, an network collaborating clinicians, groups who previously published about syndrome. All likely pathogenic or variant were included our patient categorized into "epilepsy group" "non-epilepsy group". Additionally, we reported (likely) from...
We studied the presence of benign infantile epilepsy (BIE), paroxysmal kinesigenic dyskinesia (PKD), and PKD with convulsions (PKD/IC) in patients a 16p11.2 deletion including PRRT2 or loss-of-function sequence variant. Index were recruited from seven Dutch university hospitals. The BIE, PKD/IC was retrospectively evaluated using questionnaires medical records. included 33 deletion: three (9%) had none PKD/IC. Twelve variant: BIE present four (p = 0.069), six < 0.001) two 0.067). Most...
Summary Objective To evaluate the diagnostic yield of microarray analysis in a hospital‐based cohort children with seizures and to identify novel candidate genes susceptibility loci for epilepsy. Methods Of all who presented their first seizure University Medical Center Groningen (January 2000 through May 2013) (n = 1,368), we included 226 (17%) underwent before June 2014. All had definite diagnosis copy number variants ( CNV s) on chromosomes 1–22 X that contain protein‐coding have...
Rapid advances in genomic technologies have facilitated the identification pathogenic variants causing human disease. We report siblings with developmental and epileptic encephalopathy due to a novel, shared heterozygous 13 bp duplication SYNGAP1 (c.435_447dup, p.(L150Vfs*6)) that was identified by whole genome sequencing (WGS). The variant had escaped earlier detection via two methodologies: exome high-depth targeted sequencing. Both produced reads carrying variant, however, they were...
Genetic testing and counselling are increasingly important in epilepsy care, aiming at finding a diagnosis, understanding aetiology improving treatment outcome. The psychological impact of genetic from patients' or parents' perspectives is, however, unknown. We studied the counselee-reported outcome before after for by evaluating empowerment – key goal reflecting cognitive, decisional behavioural control, emotional regulation hope anxiety. asked patients their parents (for those <16 years...