Associated Papers
Crosstalk of KCNH1 and KCNH5 gain-of-function mutations leading to epilepsy and neurodevelopmental disorders.
Bernert A et al.
Molecular Brain, 2026
The molecular basis of KCNH1-related epileptic encephalopathy and the challenge of developing targeted therapeutics.
Sundman AK et al.
Brain : a Journal of Neurology, 2026
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N et al.
Genes, 2023
36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1
Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations.
Tian MQ et al.
Cns Neuroscience & Therapeutics, 2023
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
Aubert Mucca M et al.
Journal of Medical Genetics, 2022
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Gripp KW et al.
European Journal of Human Genetics : Ejhg, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.
Fukai R et al.
Journal of Human Genetics, 2016
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
Bramswig NC et al.
Human Genetics, 2015
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