CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants

• Main Authors: Leigh Ann Higa (Author), Jennifer Wardley (Author), Christopher Wardley (Author), Susan Singh (Author), Timothy Foster (Author), Joseph J. Shen (Author)
• Format: Book
• Published: BMC, 2021-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Pathogenic variants in connector enhancer of kinase suppressor of Ras-2 (CNKSR2) located on the X chromosome (Xp22.12) lead to a disorder characterized by developmental delay and a characteristic seizure phenotype. To date, 20 affected males representing 13 different pathogenic v...