Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY, USA.
Epilepsia. 2021 Jul;62(7):e103-e109. doi: 10.1111/epi.16931. Epub 2021 May 26.
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. CSNK2B variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first 2 years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures.
CSNK2B 最近被认为是神经发育障碍（NDD）和癫痫的疾病基因。由于之前报道的许多病例年龄较小且随访时间短，关于发育结果的信息有限，因此需要进一步阐明相关表型谱。我们报告了 25 例 CSNK2B 变异的新患者，并对相关的 NDD 和癫痫表型进行了细化。CSNK2B 变异通过研究或临床外显子组测序确定，不同中心的研究人员通过 GeneMatcher 进行了联系。大多数人有发育迟缓，以及在 2 岁以内发病的全身性癫痫。然而，我们发现了表型严重程度的广泛范围，从早期正常发育伴药物反应性癫痫到严重智力残疾伴难治性癫痫和反复难治性癫痫持续状态。这些发现表明，在具有可治疗或难治性癫痫的广泛 NDD 患者的诊断评估中应考虑 CSNK2B。
