Citations 2
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.
Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy
Donoghue, Sarah , White, Susan M. , Kowalski, Remi , Yaplito‐Lee, Joy , Donoghue, Sarah E , Tan, Tiong Yang , Morava, Éva
JIMD Reports | October 20, 2020 | Volume: 57 | Issue: 1 | Pages: 29-37
AbstractWe report a patient diagnosed with PGM1‐CDG at 11 years of age after two biallelic likely pathogenic variants in PGM1 were found on research genomic sequencing. To our knowledge, he is the first patient with PGM1‐CDG to be reported with a restrictive cardiomyopathy. Other clinical manifestations included cleft palate, asymptomatic elevated transaminases, intellectual disability and myopathy resulting in exercise intolerance. He was trialed on oral galactose therapy in increasing doses for 18 weeks to assess if there was any biochemical and clinical benefit. His galactose was continued for a further 9 months beyond the initial galactose treatment period due to improvements in exercise tolerance and myopathy. Treatment with galactose demonstrated an improvement in liver function and myopathy with improved exercise tolerance. Treatment with galactose for 15 months did not change heart function and exercise stress test results were stable.