%0 Journal Article
%T A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation
%J -
%D 2019
%R https://doi.org/10.1038/s41439-019-0053-y
%X Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with SMC1A-associated CdLS with a novel SMC1A truncation mutation (p. Arg499Ter), transposition of the great arteries, and periodic intractable seizures from 40 months of age. A review of the literature revealed that a seizure-free period after birth of at least 15 months is required for these patients to be able to walk, irrespective of the epileptic course
%U https://www.nature.com/articles/s41439-019-0053-y