Journal of Clinical Research

Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy

Publications

• Mini Review   
  Diversity in Phenotypic Manifestations Associated with Novel Doublecortin Gene Mutations in Subcortical Band Heterotopia
  Author(s): Ferdinando Nicoletti*
  
  Subcortical band heterotopia commonly known as double cortex syndrome, is a rare neurological disorder characterized by abnormal bands of gray matter beneath the cerebral cortex. This condition is primarily associated with mutations in the doublecortin gene, crucial for proper neuronal migration during brain development. Recent studies have highlighted the genetic basis of SBH and the diverse clinical presentations linked to new mutations in the DCX gene. This article explores the intricate relationship between genetic mutations and clinical phenotypes in SBH, emphasizing the evolving understanding of this neurodevelopmental disorder. SBH manifests a wide spectrum of neurological symptoms, ranging from mild cognitive impairments to severe epilepsy and developmental delay. Neuroimaging studies reveal variability in radiological features, reflecting differences i.. Read More»
  DOI: 10.37421/2795- 6172.2024.8.232

  Abstract HTML PDF