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

• المؤلفون الرئيسيون: Leigh Ann Higa (مؤلف), Jennifer Wardley (مؤلف), Christopher Wardley (مؤلف), Susan Singh (مؤلف), Timothy Foster (مؤلف), Joseph J. Shen (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2021-07-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...