Publications by authors named "Gerald Egger"
Background: Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits.
Methods: Clinical assessments were performed in order to allow comparison of clinical features with other VPS13B mutations.
Autism or autism spectrum disorder (ASD) is a range of neurodevelopmental disorders starting in early childhood and is characterized by impairments in communication and reciprocal social interaction and presence of restricted and repetitive patterns of behavior. The contribution of genetic factors to autism is clear in twin and family studies. It is apparent that, overall, ASD is a complex non-Mendelian disorder.
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- - The GPHN gene encodes for gephyrin, a protein essential for organizing glycine and GABA receptors at inhibitory synapses in the brain, which is linked to neurodevelopmental disorders like autism and schizophrenia.
- - Research shows that abnormalities in GPHN mRNA, potentially caused by stress during epilepsy, may lead to seizures and other related conditions.
- - The study identifies six individuals with neurodevelopmental diagnoses who have unique deletions in the GPHN gene, suggesting these deletions may impact gephyrin's function and contribute to various disorders.