CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

TitleCSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Publication TypeJournal Article
Year of Publication2021
AuthorsErnst, ME, Baugh, EH, Thomas, A, Bier, L, Lippa, N, Stong, N, Mulhern, MS, Kushary, S, Akman, CI, Heinzen, EL, Yeh, R, Bi, W, Hanchard, NA, Burrage, LC, Leduc, MS, Chong, JSC, Bend, R, Lyons, MJ, Lee, JA, Suwannarat, P, Brilstra, E, Simon, M, Koopmans, M, van Binsbergen, E, Groepper, D, Fleischer, J, Nava, C, Keren, B, Mignot, C, Mathieu, S, Mancini, GMS, Madan-Khetarpal, S, Infante, EM, Bluvstein, J, Seeley, A, Bachman, K, Klee, EW, Schultz-Rogers, LE, Hasadsri, L, Barnett, S, Ellingson, MS, Ferber, MJ, Narayanan, V, Ramsey, K, Rauch, A, Joset, P, Steindl, K, Sheehan, T, Poduri, A, Vasquez, A, Ruivenkamp, C, White, SM, Pais, L, Monaghan, KG, Goldstein, DB, Sands, TT, Aggarwal, V
Date Published2021 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.

Alternate JournalEpilepsia
PubMed ID34041744
Grant ListUM1 HG008900 / HG / NHGRI NIH HHS / United States
UL1TR001873 / / National Center for Advancing Translational Sciences, National Institutes of Health /
UM1 HG008900 / HG / NHGRI NIH HHS / United States