Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia

• Published in: International journal of molecular sciences Vol. 25; no. 10; p. 5505
• Main Authors: Procopio, Radha, Fortunato, Francesco, Gagliardi, Monica, Talarico, Mariagrazia, Sammarra, Ilaria, Sarubbi, Maria Chiara, Malanga, Donatella, Annesi, Grazia, Gambardella, Antonio
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.05.2024
• Subjects: Adolescent; Adult; Amino acids; Anticonvulsants; Child; Child, Preschool; Classical Lissencephalies and Subcortical Band Heterotopias - genetics; Classical Lissencephalies and Subcortical Band Heterotopias - pathology; Codon, Nonsense - genetics; Convulsions & seizures; Doublecortin Domain Proteins; Doublecortin Protein; Drug resistance; Epilepsy; Female; Genes; Genetic aspects; Genomics; Humans; Intellectual disabilities; Magnetic Resonance Imaging; Medical imaging; Mental disorders; Microtubule-Associated Proteins - genetics; Mutation; Mutation, Missense; Neuroimaging; Neuropeptides - genetics; Neuropsychology; Pedigree; Phenotype; Proteins; Seizures (Medicine); X chromosomes; DCX; Subcortical Band Heterotopia (SBH); doublecortin

Doublecortin, encoded by the DCX gene, plays a crucial role in the neuronal migration process during brain development. Pathogenic variants of the DCX gene are the major causes of the “lissencephaly (LIS) spectrum”, which comprehends a milder phenotype like Subcortical Band Heterotopia (SBH) in hete...