CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
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CSNK2B最近被认为是神经发育障碍(NDD)和癫痫的致病基因。有关发育结果的信息受到年龄较小和许多先前报告的病例随访时间较短的限制，需要进一步描述相关表型的谱。我们报告了25例带有CSNK2B变异的新患者，并提炼了相关的NDD和癫痫表型。通过研究或临床外显子组测序鉴定CSNK2B变异，来自不同中心的研究人员通过GeneMatcher联系在一起。大多数人都有发育迟缓和全面性癫痫，在头两年起病。然而，我们发现了广泛的表型严重程度，从早期发育正常的药物反应性癫痫到严重的智能障碍和顽固性癫痫和反复发作的难治性癫痫状态。这些发现表明，CSNK2B应被考虑在诊断评估广泛的NDD伴可治疗或难治性癫痫的患者。
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 two 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.
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影响因子：
5.3
作者：
Okur, Volkan;Cho, Megan T.;Chung, Wendy K.
通讯作者：
Chung, Wendy K.
影响因子：
4.8
作者：
GIETZ, RD;GRAHAM, KC;LITCHFIELD, DW
通讯作者：
LITCHFIELD, DW
影响因子：
4.3
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Ceglia, Ilaria;Flajolet, Marc;Rebholz, Heike
通讯作者：
Rebholz, Heike
影响因子：
3.9
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通讯作者：
Bienvenu, Thierry
影响因子：
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作者：
Karczewski, Konrad J;Francioli, Laurent C;MacArthur, Daniel G
通讯作者：
MacArthur, Daniel G