期刊
EPILEPSIA
卷 62, 期 7, 页码 E103-E109出版社
WILEY
DOI: 10.1111/epi.16931
关键词
casein kinase II; CK2; generalized epilepsy; MSNE; myoclonic seizures; myoclonic status epilepticus
资金
- National Center for Advancing Translational Sciences, National Institutes of Health (NIH) [UL1TR001873]
- Murdoch Children's Research Institute
- Victorian Government's Operational Infrastructure Support Program
- National Human Genome Research Institute
- National Eye Institute
- National Heart, Lung, and Blood Institute [UM1 HG008900]
CSNK2B has been identified as a disease gene for neurodevelopmental disability (NDD) and epilepsy. This study presented 25 new patients with CSNK2B variants, showing a wide spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. The 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 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.
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