Publications by authors named "M Isrie"
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS.
View Article and Find Full Text PDFBackground: Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. The aim of this study is to describe the mutational frequency and phenotypic spectrum of the CEP120 gene.
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- The study investigates the role of fibroblast growth factor homologous factors (FHFs) in early-onset epileptic encephalopathies (EOEE), emphasizing its potential connection to voltage-gated sodium channels (Nav).
- Using whole-exome sequencing in a family with siblings suffering from a severe condition, researchers identified a new mutation in the FHF1 gene that may impact neuronal excitability.
- The findings indicate that this FHF1 mutation causes a gain-of-function effect, altering sodium channel interactions and contributing to the neurological disorder observed in the affected children.
Circumferential skin creases Kunze type (CSC-KT) is a specific congenital entity with an unknown genetic cause. The disease phenotype comprises characteristic circumferential skin creases accompanied by intellectual disability, a cleft palate, short stature, and dysmorphic features. Here, we report that mutations in either MAPRE2 or TUBB underlie the genetic origin of this syndrome.
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