Article
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
Journal of medical genetics - 1 May 2022
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, Mignot Cyril
Abstract excerpt
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...
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