CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
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ABSTRACT:
SUBMITTER: Ernst ME
PROVIDER: S-EPMC9189716 | biostudies-literature | 2021 Jul
REPOSITORIES: biostudies-literature
Publications
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Ernst Michelle E ME Baugh Evan H EH Thomas Amanda A Bier Louise L Lippa Natalie N Stong Nicholas N Mulhern Maureen S MS Kushary Sulagna S Akman Cigdem I CI Heinzen Erin L EL Yeh Raymond R Bi Weimin W Hanchard Neil A NA Burrage Lindsay C LC Leduc Magalie S MS Chong Josephine S C JSC Bend Renee R Lyons Michael J MJ Lee Jennifer A JA Suwannarat Pim P Brilstra Eva E Simon Marleen M Koopmans Marije M van Binsbergen Ellen E Groepper Daniel D Fleischer Julie J Nava Caroline C Keren Boris B Mignot Cyril C Mathieu Sophie S Mancini Grazia M S GMS Madan-Khetarpal Suneeta S Infante Elena M EM Bluvstein Judith J Seeley Andrea A Bachman Kristine K Klee Eric W EW Schultz-Rogers Laura E LE Hasadsri Linda L Barnett Sarah S Ellingson Marissa S MS Ferber Matthew J MJ Narayanan Vinodh V Ramsey Keri K Rauch Anita A Joset Pascal P Steindl Katharina K Sheehan Theodore T Poduri Annapurna A Vasquez Alejandra A Ruivenkamp Claudia C White Susan M SM Pais Lynn L Monaghan Kristin G KG Goldstein David B DB Sands Tristan T TT Aggarwal Vimla V
Epilepsia 20210526 7
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 ...[more]
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