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Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy
TLDR
The clinical and electroencephalographic phenotype in patients with PROSC mutations was indistinguishable from ALDH7A1 and PNPO deficiency, and pyridoxine monotherapy allowed complete seizure control in one, while two patients had occasional febrile or afebrile seizures and one needed additional valproate therapy for photosensitive seizures. Expand
Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways.
TLDR
It is shown that haploinsufficiency of the ATP-dependent chromatin remodeler, BAZ1B, which is deleted in WS, significantly contributes to this differentiation defect and can be rescued by mitigating over-active Wnt signaling in neural stem cells. Expand
Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
TLDR
The data for the first time show systematically that increased susceptibility to infections in MECP2 duplication syndrome is associated with IgA/IgG2-deficiency, low antibody titers against pneumococci and elevated acute-phase responses. Expand
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
TLDR
Using an LC-MS-based metabolomics platform, several metabolites with affected plasma concentrations including the tricarboxylic acid cycle metabolites cis-aconitate, isocitrate and alpha-ketoglutarate are identified, as well as phosphoenolpyruvate and hydroxybutyrate. Expand
Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature.
TLDR
A 6-year-old girl with NF1 and moyamoya syndrome is reported on, with a brief review of the existing literature. Expand
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
TLDR
12 independent patients are identified carrying a total of eight distinct de novo variants in CYFIP2 with a shared phenotype of intellectual disability, seizures, and muscular hypotonia broadening the molecular and clinical spectrum of a novel CYFip2-related neurodevelopmental disorder. Expand
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
TLDR
This report reports the case of a girl with severe infantile onset epileptic encephalopathy and a de novo missense mutation in the SCN2A gene, who presented with a transient choreatic movement disorder, hypersomnia, and progressive brain atrophy. Expand
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies
TLDR
PM concentrations and the PM/PA ratio clearly separated PNPO-deficient patients from the other cohorts, and represents a robust biomarker for the selective screening of PN PO deficiency. Expand
3p Interstitial Deletion
TLDR
A novel case presenting severely delayed neurodevelopment and psychomotor development; facial dysmorphism; cerebral, cardiac, and genital malformations; hand and feet anomalies; sacral sinus; and hearing impairment is added. Expand
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