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Ernst, M.E.; Baugh, E.H.; Thomas, A.; Bier, L.; Lippa, N.; Stong, N.; ... ; Aggarwal, V. (2021)

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Article / Letter to editor
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...Show moreCSNK2B 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.Show less
casein kinase II
CK2
generalized epilepsy
MSNE
myoclonic seizures
myoclonic status epilepticus
All authors
Ernst, M.E.; Baugh, E.H.; Thomas, A.; Bier, L.; Lippa, N.; Stong, N.; Mulhern, M.S.; Kushary, S.; Akman, C.I.; Heinzen, E.L.; Yeh, R.; Bi, W.M.; Hanchard, N.A.; Burrage, L.C.; Leduc, M.S.; Chong, J.S.C.; Bend, R.; Lyons, M.J.; Lee, J.A.; Suwannarat, P.; Brilstra, E.; Simon, M.; Koopmans, M.; Binsbergen, E. van; Groepper, D.; Fleischer, J.; Nava, C.; Keren, B.; Mignot, C.; Mathieu, S.; Mancini, G.M.S.; Madan-Khetarpal, S.; Infante, E.M.; Bluvstein, J.; Seeley, A.; Bachman, K.; Klee, E.W.; Schultz-Rogers, L.E.; Hasadsri, L.; Barnett, S.; Ellingson, M.S.; Ferber, M.J.; Narayanan, V.; Ramsey, K.; Rauch, A.; Joset, P.; Steindl, K.; Sheehan, T.; Poduri, A.; Vasquez, A.; Ruivenkamp, C.; White, S.M.; Pais, L.; Monaghan, K.G.; Goldstein, D.B.; Sands, T.T.; Aggarwal, V.
Date
2021-05-26
Journal
Epilepsia
Volume
62
Issue
7
Pages
E103 - E109
DOI
doi:10.1111/epi.16931