Mariola Rudzka‐Dybała
A5050640803- Genetics and Neurodevelopmental Disorders
- Cellular transport and secretion
- Genomic variations and chromosomal abnormalities
- Autoimmune Neurological Disorders and Treatments
- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Neuroendocrine Tumor Research Advances
- Microtubule and mitosis dynamics
- Lysosomal Storage Disorders Research
- Peripheral Neuropathies and Disorders
- Chromosomal and Genetic Variations
<h3>Objective</h3> We aimed to delineate the neurodevelopmental spectrum associated with <i>SYNGAP1</i> mutations and investigate genotype–phenotype correlations. <h3>Methods</h3> sequenced exome or screened exons of in a total 251 patients disorders. Molecular clinical data from other centres were also collected, focusing on developmental aspects epilepsy phenotype. A review published literature was performed. <h3>Results</h3> describe 17 unrelated affected individuals carrying 13 different...
Abstract Copy‐number variants (CNVs) collectively represent an important cause of neurodevelopmental disorders such as developmental delay (DD)/intellectual disability (ID), autism, and epilepsy. In contrast to DD/ID, for which the application microarray techniques enables detection pathogenic CNVs in ∼10–20% patients, there are only few studies role epilepsy genetic etiology vast majority cases remains unknown. We have applied whole‐genome exon‐targeted oligonucleotide array comparative...
Congenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity is most usually associated with a variety of neurodevelopmental disorders. The underlying etiology highly heterogeneous can be either environmental or genetic. Disruption any one multiple biological processes, such as those neurogenesis, cell cycle division, DNA repair transcription regulation, result in microcephaly. This etiological heterogeneity manifests clinical variability presents...