CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants.
Leigh Ann HigaJennifer WardleyChristopher WardleySusan SinghTimothy FosterJoseph J ShenPublished in: BMC medical genomics (2021)
This expanded knowledge, combined with functional studies and work with animal models currently underway, will enable a better understanding and improved ability to care for individuals with CNKSR2-related neurodevelopmental and epilepsy disorder.