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
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
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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