Publications by authors named "A Rastetter"
Article Synopsis
- - The Aristaless-related homeobox gene on the X chromosome is crucial for brain development, with well-documented disorders in males, but less clear effects in females, who are often asymptomatic.
- - This study examined 10 unpublished female patients with new pathogenic variants and reviewed 63 previously documented cases, revealing a diverse clinical spectrum among females with these variants.
- - Findings indicated that 42.5% of female carriers are asymptomatic, while 41% exhibit severe symptoms like intellectual disability or developmental conditions, with a higher prevalence of severe phenotypes in those with de novo variants compared to inherited ones.
Article Synopsis
- The study investigates anomalies of the corpus callosum (ACC), a common brain malformation, highlighting that the genetic causes of ACC without intellectual disability (ID) are not well understood.
- Researchers identified a new dominant gene associated with ACC, reporting on nine individuals with a specific genetic variant linked to both familial inheritance and normal cognitive function.
- Findings indicate that this gene may lead to ACC while maintaining normal intellectual abilities, suggesting a broader range of physical malformations associated with it beyond just eye conditions.
Article Synopsis
- - The study focuses on identifying disease-associated genes on chromosome X, which is difficult due to its unique inheritance patterns.
- - Researchers found a notable prevalence of genes related to cognitive functions and seizures on chromosome X and identified 127 genes that may be associated with known disorders.
- - Utilizing machine learning, the team classified 247 genes as likely disease-associated and highlighted specific damaging variants in CDK16 and TRPC5 linked to intellectual disabilities and autism spectrum disorders.
Background: Variants in SCN1A gene, encoding the voltage-gated sodium channel Na1.1, are associated with distinct epilepsy syndromes ranging from the relatively benign genetic epilepsy with febrile seizures plus (GEFS+) to Dravet syndrome, a severe developmental and epileptic encephalopathy (DEE). Most SCN1A pathogenic variants are heterozygous changes inherited in a dominant or de novo inheritance and many cause a loss-of-function of one allele.
View Article and Find Full Text PDFKCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and locomotor activity, tremor and memory deficits, but human disorders related to KCNN2 variants are largely unknown. Using exome sequencing, we identified a de novo KCNN2 frameshift deletion in a patient with learning disabilities, cerebellar ataxia and white matter abnormalities on brain MRI.
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