CDKL5 Deficiency Disorder (CDD)-Rare Presentation in Male

• Auteurs principaux: Małgorzata Rodak (Auteur), Mariola Jonderko (Auteur), Patrycja Rozwadowska (Auteur), Magdalena Machnikowska-Sokołowska (Auteur), Justyna Paprocka (Auteur)
• Format: Livre
• Publié: MDPI AG, 2022-11-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the X-linked cyclin-dependent kinase 5 (CDKL5) gene. This rare disorder occurs more frequently in females than in males. The incidence is estimated to be approximately 1: 40,000-60,000 live births. So...