CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Michelle E. Ernst; Evan H. Baugh; Amanda Thomas; Louise Bier; Natalie Lippa; Nicholas Stong; Maureen S. Mulhern; Sulagna Kushary; Cigdem I. Akman; Erin L. Heinzen; Raymond Yeh; Weimin Bi; Neil A. Hanchard; Lindsay C. Burrage; Magalie S. Leduc; Josephine S.C. Chong; Renee Bend; Michael J. Lyons; Jennifer A. Lee; Pim Suwannarat; Eva Brilstra; Marleen Simon; Marije Koopmans; Ellen van Binsbergen; Daniel Groepper; Julie Fleischer; Caroline Nava; Boris Keren; Cyril Mignot; Sophie Mathieu; Grazia M.S. Mancini; Suneeta Madan-Khetarpal; Elena M. Infante; Judith Bluvstein; Andrea Seeley; Kristine Bachman; Eric W. Klee; Laura E. Schultz-Rogers; Linda Hasadsri; Sarah Barnett; Marissa S. Ellingson; Matthew J. Ferber; Vinodh Narayanan; Keri Ramsey; Anita Rauch; Pascal Joset; Katharina Steindl; Theodore Sheehan; Annapurna Poduri; Alejandra Vasquez; Claudia Ruivenkamp; Susan M. White; Lynn Pais; Kristin G. Monaghan; David B. Goldstein; Tristan T. Sands; Vimla Aggarwal

doi:10.1111/epi.16931

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Michelle E. Ernst, Evan H. Baugh, Amanda Thomas, Louise Bier, Natalie Lippa, Nicholas Stong, Maureen S. Mulhern, Sulagna Kushary, Cigdem I. Akman, Erin L. Heinzen, Raymond Yeh, Weimin Bi, Neil A. Hanchard, Lindsay C. Burrage, Magalie S. Leduc, Josephine S.C. Chong, Renee Bend, Michael J. Lyons, Jennifer A. Lee, Pim SuwannaratEva Brilstra, Marleen Simon, Marije Koopmans, Ellen van Binsbergen, Daniel Groepper, Julie Fleischer, Caroline Nava, Boris Keren, Cyril Mignot, Sophie Mathieu, Grazia M.S. Mancini, Suneeta Madan-Khetarpal, Elena M. Infante, Judith Bluvstein, Andrea Seeley, Kristine Bachman, Eric W. Klee, Laura E. Schultz-Rogers, Linda Hasadsri, Sarah Barnett, Marissa S. Ellingson, Matthew J. Ferber, Vinodh Narayanan, Keri Ramsey, Anita Rauch, Pascal Joset, Katharina Steindl, Theodore Sheehan, Annapurna Poduri, Alejandra Vasquez, Claudia Ruivenkamp, Susan M. White, Lynn Pais, Kristin G. Monaghan, David B. Goldstein, Tristan T. Sands, Vimla Aggarwal

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	e103-e109
Journal	Epilepsia
Volume	62
Issue number	7
DOIs	https://doi.org/10.1111/epi.16931
State	Published - Jul 2021

Keywords

CK2
CSNK2A1
MSNE
casein kinase II
generalized epilepsy
myoclonic seizures
myoclonic status epilepticus

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1111/epi.16931

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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., Hanchard, N. A., Burrage, L. C., Leduc, M. S., Chong, J. S. C., Bend, R., Lyons, M. J., Lee, J. A., ... Aggarwal, V. (2021). CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia, 62(7), e103-e109. https://doi.org/10.1111/epi.16931

Ernst, 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 2021, 'CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity', Epilepsia, vol. 62, no. 7, pp. e103-e109. https://doi.org/10.1111/epi.16931

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title = "CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity",

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.",

keywords = "CK2, CSNK2A1, MSNE, casein kinase II, generalized epilepsy, myoclonic seizures, myoclonic status epilepticus",

author = "Ernst, {Michelle E.} and Baugh, {Evan H.} and Amanda Thomas and Louise Bier and Natalie Lippa and Nicholas Stong and Mulhern, {Maureen S.} and Sulagna Kushary and Akman, {Cigdem I.} and Heinzen, {Erin L.} and Raymond Yeh and Weimin Bi and Hanchard, {Neil A.} and Burrage, {Lindsay C.} and Leduc, {Magalie S.} and Chong, {Josephine S.C.} and Renee Bend and Lyons, {Michael J.} and Lee, {Jennifer A.} and Pim Suwannarat and Eva Brilstra and Marleen Simon and Marije Koopmans and {van Binsbergen}, Ellen and Daniel Groepper and Julie Fleischer and Caroline Nava and Boris Keren and Cyril Mignot and Sophie Mathieu and Mancini, {Grazia M.S.} and Suneeta Madan-Khetarpal and Infante, {Elena M.} and Judith Bluvstein and Andrea Seeley and Kristine Bachman and Klee, {Eric W.} and Schultz-Rogers, {Laura E.} and Linda Hasadsri and Sarah Barnett and Ellingson, {Marissa S.} and Ferber, {Matthew J.} and Vinodh Narayanan and Keri Ramsey and Anita Rauch and Pascal Joset and Katharina Steindl and Theodore Sheehan and Annapurna Poduri and Alejandra Vasquez and Claudia Ruivenkamp and White, {Susan M.} and Lynn Pais and Monaghan, {Kristin G.} and Goldstein, {David B.} and Sands, {Tristan T.} and Vimla Aggarwal",

note = "Publisher Copyright: {\textcopyright} 2021 International League Against Epilepsy",

year = "2021",

month = jul,

doi = "10.1111/epi.16931",

language = "English (US)",

volume = "62",

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AU - Bier, Louise

AU - Lippa, Natalie

AU - Stong, Nicholas

AU - Mulhern, Maureen S.

AU - Kushary, Sulagna

AU - Akman, Cigdem I.

AU - Heinzen, Erin L.

AU - Yeh, Raymond

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AU - Lyons, Michael J.

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AU - Simon, Marleen

AU - Koopmans, Marije

AU - van Binsbergen, Ellen

AU - Groepper, Daniel

AU - Fleischer, Julie

AU - Nava, Caroline

AU - Keren, Boris

AU - Mignot, Cyril

AU - Mathieu, Sophie

AU - Mancini, Grazia M.S.

AU - Madan-Khetarpal, Suneeta

AU - Infante, Elena M.

AU - Bluvstein, Judith

AU - Seeley, Andrea

AU - Bachman, Kristine

AU - Klee, Eric W.

AU - Schultz-Rogers, Laura E.

AU - Hasadsri, Linda

AU - Barnett, Sarah

AU - Ellingson, Marissa S.

AU - Ferber, Matthew J.

AU - Narayanan, Vinodh

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AU - Rauch, Anita

AU - Joset, Pascal

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AU - Sheehan, Theodore

AU - Poduri, Annapurna

AU - Vasquez, Alejandra

AU - Ruivenkamp, Claudia

AU - White, Susan M.

AU - Pais, Lynn

AU - Monaghan, Kristin G.

AU - Goldstein, David B.

AU - Sands, Tristan T.

AU - Aggarwal, Vimla

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AB - 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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KW - myoclonic seizures

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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Abstract

Keywords

ASJC Scopus subject areas

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