Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laban...
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
About this item
Full title
Author / Creator
Aubert Mucca, Marion , Patat, Olivier , Whalen, Sandra , Arnaud, Lionel , Barcia, Giulia , Buratti, Julien , Cogné, Benjamin , Doummar, Diane , Karsenty, Caroline , Kenis, Sandra , Leguern, Eric , Lesca, Gaetan , Nava, Caroline , Nizon, Mathilde , Piton, Amelie , Valence, Stéphanie , Villard, Laurent , Weckhuysen, Sarah , Keren, Boris and Mignot, Cyril
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
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 di...
Alternative Titles
Full title
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
Authors, Artists and Contributors
Author / Creator
Patat, Olivier
Whalen, Sandra
Arnaud, Lionel
Barcia, Giulia
Buratti, Julien
Cogné, Benjamin
Doummar, Diane
Karsenty, Caroline
Kenis, Sandra
Leguern, Eric
Lesca, Gaetan
Nava, Caroline
Nizon, Mathilde
Piton, Amelie
Valence, Stéphanie
Villard, Laurent
Weckhuysen, Sarah
Keren, Boris
Mignot, Cyril
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_03244899v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03244899v1
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2020-107511
