Associated Papers
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
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
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
Napoli G et al.
Molecular Neurobiology, 2022
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.
Wright CF et al.
Nature Communications, 2019
31278258 (PubMed )
Supplement: 41467_2019_11059_MOESM3_ESM.xlsx › Supplementary_Data1
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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