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Title
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Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
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Author
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Abstract
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| De novo missense variants in KCNH1 encoding Kv10.1 are responsible for two clinically recognisable phenotypes: Temple-Baraitser syndrome (TBS) and Zimmermann-Laband syndrome (ZLS). The clinical overlap between these two syndromes suggests that they belong to a spectrum of KCNH1 -related encephalopathies. Affected patients have severe intellectual disability (ID) with or without epilepsy, hypertrichosis and distinctive features such as gingival hyperplasia and nail hypoplasia/aplasia (present in 20/23 reported cases). |
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Language
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English
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Source (journal)
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Journal of medical genetics. - London, 1964, currens
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Publication
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London
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British Medical Association
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2021
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ISSN
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0022-2593
[Print]
1468-6244
[Online]
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DOI
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10.1136/JMEDGENET-2020-107511
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Volume/pages
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(2021)
, 6 p.
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ISI
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000728751900001
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Pubmed ID
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33811134
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Full text (Publisher's DOI)
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Full text (open access)
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Full text (publisher's version - intranet only)
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