Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders
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DOI: 10.3389/fnmol.2022.809810
Abstract: Background KCNQ2-related disorder is typically characterized as neonatal onset seizure and epileptic encephalopathy. The relationship between its phenotype and genotype is still elusive. This study aims to provide clinical features, management, and prognosis of patients… read more here.
Keywords: patients novel; kcnq2 related; novel kcnq2; kcnq2 ... See more keywords
Phelan–McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses
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DOI: 10.3389/fped.2022.888001
Abstract: Background PhelanrMcDermid syndrome (PMS) is an uncommon autosomal dominant inherited developmental disorder. The main characteristics are hypotonia, intellectual disability, autism spectrum disorder, autism-like behaviors and tiny facial deformities. Most cases are caused by the deletion… read more here.
Keywords: intellectual disability; patients novel; novel mutations; pediatric patients ... See more keywords