Article
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Clinical genetics - 1 Oct 2021
Oates Stephanie, Absoud Michael, Goyal Sushma, Bayley Sophie, Baulcomb Jennifer, Sims Annemarie, Riddett Amy, Allis Katrina, Brasch-Andersen Charlotte, Balasubramanian Meena, Bai Renkui, Callewaert Bert, Hüffmeier Ulrike, Le Duc Diana, Radtke Maximilian, Korff Christian, Kennedy Joanna, Low Karen, Møller Rikke S, Nielsen Jens Erik Klint, Popp Bernt, Quteineh Lina, Rønde Gitte, Schönewolf-Greulich Bitten, Shillington Amelle, Taylor Matthew Rg, Todd Emily, Torring Pernille M, Tümer Zeynep, Vasileiou Georgia, Yates T Michael, Zweier Christiane, Rosch Richard, Basson M Albert, Pal Deb K
Abstract excerpt
ZMYND11 is the critical gene in chromosome 10p15.3 microdeletion syndrome, a syndromic cause of intellectual disability. The phenotype of ZMYND11 variants has recently been extended to autism and seizures. We expand on the epilepsy phenotype of 20 individuals with pathogenic variants in ZMYND11. We obtained clinical descriptions of 16 new and nine published individuals, plus detailed case history of two children....
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