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Publication Detail
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A.
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Publication Type:Journal article
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Publication Sub Type:Article
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Authors:Efthymiou S, Salpietro V, Bettencourt C, Houlden H
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Publication date:09/2018
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Pagination:114, 116
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Journal:J Pediatr Genet
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Volume:7
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Issue:3
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Status:Published
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Country:Germany
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Print ISSN:2146-4596
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PII:1800010
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Language:eng
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Keywords:KAT6A, global developmental delay, startle reflex syndrome
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Author URL:
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Full Text URL:
Abstract
Mutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype-phenotype correlations are available for some of the most rare or recently reported genetic disorders related to chromatin dysregulation. We hereby report a de novo truncating mutation in KAT6A (c.3338C > G; p.S1113X) in a young male patient with intellectual disability associated with impaired speech and autistic features, who also presented with infantile seizures and a complex movement disorder phenotype with paroxysmal episodes of abnormal startle responses.
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