Publications by authors named "Birgit Neophytou"
Article Synopsis
- Rolandic epilepsy (RE) is the most common type of focal epilepsy found in children, and this study focuses on the genetic aspects of RE and atypical RE (ARE).
- Whole-exome sequencing was performed on 194 unrelated patients with RE/ARE and compared with 567 control subjects, revealing a significant enrichment of harmful variants in the established RE/ARE gene GRIN2A.
- However, this genetic significance diminished when ARE patients were excluded from the analysis, although some gene sets showed a higher odds ratio for loss-of-function variants.
Objective: The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants.
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- The study aimed to determine if mutations in GABAA -R subunit genes, particularly GABRG2, are linked to rolandic epilepsy (RE) or its atypical forms (ARE).
- Researchers conducted exome sequencing on 204 RE/ARE patients and 728 controls, finding a significant presence of rare variants in the GABRG2 gene among patients.
- Specific mutations in GABRG2 were shown to impair protein stability and receptor function, suggesting that enhancing palmitoylation may offer a therapeutic strategy to mitigate these defects.
Rolandic epilepsy (RE) and its atypical variants (atypical rolandic epilepsy, ARE) along the spectrum of epilepsy-aphasia disorders are characterized by a strong but largely unknown genetic basis. Two genes with a putative (ELP4) or a proven (SRPX2) function in neuronal migration were postulated to confer susceptibility to parts of the disease spectrum: the ELP4 gene to centrotemporal spikes and SRPX2 to ARE. To reexamine these findings, we investigated a cohort of 280 patients of European ancestry with RE/ARE for the etiological contribution of these genes and their close interaction partners.
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- Rolandic epilepsy (RE) is the most common form of childhood epilepsy, but its genetic causes are not fully understood, prompting research into specific genetic variants linked to neurodevelopmental disorders.
- Studies found a significant association between a 600 kb genomic duplication at the 16p11.2 locus and an increased risk of RE in a group of 393 patients compared to a large European control population.
- The 16p11.2 duplication is specifically enriched in idiopathic focal childhood epilepsies, highlighting it as a significant genetic risk factor for typical and atypical RE.
Intellectual disability and seizures are frequently associated with hypomagnesemia and have an important genetic component. However, to find the genetic origin of intellectual disability and seizures often remains challenging because of considerable genetic heterogeneity and clinical variability. In this study, we have identified new mutations in CNNM2 in five families suffering from mental retardation, seizures, and hypomagnesemia.
View Article and Find Full Text PDFRecent studies reported DEPDC5 loss-of-function mutations in different focal epilepsy syndromes. Here we identified 1 predicted truncation and 2 missense mutations in 3 children with rolandic epilepsy (3 of 207). In addition, we identified 3 families with unclassified focal childhood epilepsies carrying predicted truncating DEPDC5 mutations (3 of 82).
View Article and Find Full Text PDFHigh urinary creatine to creatinine ratio (U-CrCrtR) is a potential diagnostic marker of X-linked creatine transporter (SLC6A8) deficiency. We developed a tandem mass-spectrometry method to simultaneously determine urinary creatine and creatinine in 975 individuals (0-18 years). U-CrCrtR increased up to 8 years and decreased thereafter.
View Article and Find Full Text PDFBackground: Permanent consequences in Langerhans cell histiocytosis (LCH) are irreversible late sequelae related to the disease that may severely impair the quality of life of survivors. The frequency and pattern of permanent consequences affecting the central nervous system (CNS) remains to be determined.
Procedure: In this single center study, 25 LCH patients observed for a median time of 10 years 3 months underwent a uniform thorough follow-up program including neuropsychological testing and electrophysiological evaluation.