Publicaties
Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases Vrije Universiteit Brussel KU Leuven
OBJECTIVE: 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.
METHODS: Multi centre study concerning the course of disease for each organ system, together with metabolic, neuroradiological and genetic findings.
RESULTS: 67 individuals (39 previously unreported) from 59 families were included (age range 5 days - 33.4 ...
Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator Vrije Universiteit Brussel KU Leuven
The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced clinicians (five from Africa and five from Europe) rated gestalt in 127 African non-Down Syndrome (non-DS) patients using either the score 2 for 'clearly dysmorphic', 0 for 'clearly non ...
fNIRS: a View between Current and Future Perspectives in Psychiatric Research Universiteit Hasselt
Duplication 2p16 is associated with perisylvian polymicrogyria Vrije Universiteit Brussel
Polymicrogyria (PMG) is a heterogeneous brain malformation that may result from prenatal vascular disruption or infection, or from numerous genetic causes that still remain difficult to identify. We identified three unrelated patients with polymicrogyria and duplications of chromosome 2p, defined the smallest region of overlap, and performed gene pathway analysis using Cytoscape. The smallest region of overlap in all three children involved ...
Phenotype of COL3A1/COL5A2 deletion patients Universiteit Antwerpen
KCNQ2 encephalopathy Universiteit Antwerpen Universiteit Gent KU Leuven
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy Vrije Universiteit Brussel
A few reports on patients with a KCNQ2 mutation with a more severe outcome exist, but a definite relationship has
not been established. In this study we investigated whether KCNQ2/3 mutations are a frequent cause of epileptic
encephalopathies with an early onset and whether a recognizable phenotype exists.
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