Citations 3
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
Ernst, Michelle, Baugh, Evan H., Thomas‐Wilson, Amanda , Bier, Louise , Lippa, Natalie , Stong, Nicholas , Mulhern, Maureen , Kushary, Sulagna , Akman, Cigdem I. , Heinzen, Erin L. , Yeh, Raymond, He, Weimin , Hanchard, Neil A. , Burrage, Lindsay C. , Leduc, Magalie S. , Chong, Josephine S. C., Bend, Renee, Lyons, Michael J. , Lee, Jennifer A. , Suwannarat, Pim, Brilstra, Eva H. , Simon, Marleen, Binsbergen, Ellen van , Groepper, Daniel , Fleischer, Julie , Keren, Boris , Mignot, Cyril , Mathieu, Sophie , Mancini, Grazia M.S. , Madan‐Khetarpal, Suneeta, Infante, Elena , Bluvstein, Judith , Seeley, Andrea , Bachman, Kristine , Klee, Eric W. , Schultz‐Rogers, Laura , Hasadsri, Linda , Barnett, Sarah , Ellingson, Marissa S. , Ferber, Matthew J. , Ramsey, Keri , Rauch, Anita , Joset, Pascal , Steindl, Katharina , Sheehan, Theodore , Vasquez, Alejandra , Ruivenkamp, Claudia , White, Susan M. , Monaghan, Kristin G. , Goldstein, David B. , Sands, Tristan T. , Aggarwal, Vimla S. , Ernst, Michelle E , Schultz-Rogers, Laura E, Sheehan, Theodore , Poduri, Annapurna , Sands, Tristan T , Rauch, Anita , Burrage, Lindsay C , Stong, Nicholas , Yeh, Raymond, Koopmans, Marion , Nava, Caroline , Narayanan, Vinodh , Pais, Lynn
Epilepsia | May 27, 2021 | Volume: 62 | Issue: 7 | Pages: No page available
AbstractCSNK2B 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.
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease
Robak, Laurie , Du, Renqian, Gu, Shen , Alfradique‐Dunham, Isabel , Kondapalli, Vismaya, Hinojosa, Evelyn, Stillwell, Amanda, Zhang, Chaofan , Du, Haowei , Jhangiani, Shalini N. , Coban‐Akdemir, Zeynep , Muzny, Donna M., Tejomurtula, Anusha, Ross, Owen A. , Shaw, Chad A. , Jankovic, Joseph, He, Weimin , Robak, Laurie A , Yuan, Bo, Alfradique-Dunham, Isabel, Young, Emily, Song, Xiaofei, Gambin, Tomasz, Coban Akdemir, Zeynep, Shaw, Chad, Bi, Weimin, Posey, Jennifer E , Lupski, James R, Ross, Owen A , Yuan, Bo , Stillwell, Amanda, Young, Emily, Song, Xiaofei , Gambin, Tomasz , Muzny, Donna M. , Jankovic, Joseph J. , Lupski, James R. , Shulman, Joshua
Neurology Genetics | July 29, 2020 | Volume: 6 | Issue: 5 | Pages: No page available
Novel X‐linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R
Blease, Sophie, Braxton, Alicia, Graves, Julia, He, Weimin , Person, Richard, Slattery, Leah, Bernstein, Jonathan A. , Hudgins, Louanne , Atwal, Paldeep Singh, Atwal, Paldeep S , He, Weimin
American Journal of Medical Genetics Part A | December 21, 2015 | Volume: 170 | Issue: 4 | Pages: 891-895
Filamin A (FLNA) is known to be involved in intracellular actin binding, cell migration, scaffolding, and signaling. We report a novel X‐linked syndrome characterized by cardiac valvular disease, keloid scarring and reduced joint mobility in male second cousins due to a previously unreported mutation in FLNA. Whole exome sequencing was performed using standard methods and segregation analysis was performed in affected and non‐affected family members. A novel hemizygous c.4726G>A (p.G1576R) mutation in FLNA was detected. Segregation analysis performed on multiple maternal family members showed c.4726G>A (p.G1576R) segregated with disease in an X‐linked inheritance pattern. The findings in these cases are distinct from previously described FLNA related disorders by virtue of decreased joint mobility and spontaneous keloid scarring. They occur in association with a novel mutation and represent a novel genetic syndrome. © 2015 Wiley Periodicals, Inc.