Joseph D Symonds, Kristen L Park, Cyril Mignot, Stewart Macleod, Martin Armstrong, Houman Ashrafian, Geneviève Bernard, Kathleen Brown, Andreas Brunklaus, Mary Callaghan, Georg Classen, Julie S Cohen, Ioana Cutcutache, Jean-Madeleine de Sainte Agathe, David Dyment, Katherine S Elliot, Arnaud Isapof, Shelagh Joss, Boris Keren, Michael Marble, Amy McTague, Matthew Osmond, Matthew Page, Marc Planes, Konrad Platzer, Sylvia Redon, James Reese, Margarita Saenz, Constance Smith-Hicks, Daniel Stobo, Christian Stockhaus, Marie-Laure Vuillaume, Nicole I Wolf, Emma L Wakeling, Grace Yoon, Julian C Knight, Sameer M Zuberi
OBJECTIVE: POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non-coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited hypomyelinating leukodystrophy. Recently, de novo heterozygous variants in POLR3B were reported in six individuals with ataxia, spasticity, and demyelinating peripheral neuropathy. Three of these individuals had epileptic seizures. The aim of this article is to precisely define the epilepsy phenotype associated with de novo heterozygous POLR3B variants...
September 30, 2024: Epilepsia