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
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Neurocardiac pathologies associated with potassium channelopathies.
Singh V et al.
Epilepsia, 2024
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
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Gao X et al.
Human 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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
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Eag1 K+ Channel: Endogenous Regulation and Functions in Nervous System.
Han B et al.
Oxidative Medicine and Cellular Longevity, 2017
36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2016
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
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Simons C et al.
Nature Genetics, 2015
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