Kleefstra syndrome: Impact on parents.

Background: Kleefstra syndrome (KS) is associated with developmental delay, autism, intellectual disability, psychosis, and regression. Research has not been conducted to assess the impact of KS on parents.

Objective/hypothesis: A mixed-method study was conducted to assess the impact on parental well-being by evaluating parents' well-being, identifying factors of parental experience predicting well-being, and exploring the parental experience.

The increasing challenge of genetic counseling for cystic fibrosis.

Genetic counseling for cystic fibrosis (CF) is challenged by intricate molecular mechanisms, complex phenotypes, and psychosocial needs. CFTR variant interpretation has become critical; this manuscript examines variant nomenclature and classes, as well as opportunities and challenges posed by genetic technologies and genotype-directed therapies. With post-graduate training in medical genetics and counseling, genetic counselors educate patients and families, facilitate testing and interpretation, and help integrate genetic information into diagnosis and treatment.

Mutations in SCN3A cause early infantile epileptic encephalopathy.

Objective: Voltage-gated sodium (Na ) channels underlie action potential generation and propagation and hence are central to the regulation of excitability in the nervous system. Mutations in the genes SCN1A, SCN2A, and SCN8A, encoding the Na channel pore-forming (α) subunits Nav1.1, 1.