| Literature DB >> 34041744 |
Michelle E Ernst1,2, Evan H Baugh1, Amanda Thomas3, Louise Bier1, Natalie Lippa1, Nicholas Stong1, Maureen S Mulhern1, Sulagna Kushary1, Cigdem I Akman4, Erin L Heinzen1,5, Raymond Yeh3, Weimin Bi6, Neil A Hanchard6, Lindsay C Burrage6, Magalie S Leduc6, Josephine S C Chong7, Renee Bend8, Michael J Lyons8, Jennifer A Lee8, Pim Suwannarat9, Eva Brilstra10, Marleen Simon10, Marije Koopmans10, Ellen van Binsbergen10, Daniel Groepper11, Julie Fleischer11, Caroline Nava12, Boris Keren12, Cyril Mignot12,13, Sophie Mathieu14, Grazia M S Mancini15, Suneeta Madan-Khetarpal16, Elena M Infante16, Judith Bluvstein17, Andrea Seeley18, Kristine Bachman18, Eric W Klee19,20, Laura E Schultz-Rogers19,20, Linda Hasadsri21, Sarah Barnett21, Marissa S Ellingson21, Matthew J Ferber22, Vinodh Narayanan23, Keri Ramsey23, Anita Rauch24, Pascal Joset24, Katharina Steindl24, Theodore Sheehan25, Annapurna Poduri25, Alejandra Vasquez25,26, Claudia Ruivenkamp27, Susan M White28,29, Lynn Pais30, Kristin G Monaghan31, David B Goldstein1, Tristan T Sands1,4, Vimla Aggarwal1,3.
Abstract
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.Entities:
Keywords: zzm321990CSNK2A1zzm321990; CK2; MSNE; casein kinase II; generalized epilepsy; myoclonic seizures; myoclonic status epilepticus
Mesh：
Year: 2021 PMID： 34041744 PMCID： PMC9189716 DOI： 10.1111/epi.16931
Source DB: PubMed Journal: Epilepsia ISSN： 0013-9580 Impact factor: 6.740