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
36285361 (PubMed )
Supplement: CNS-29-270-s001.docx
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
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
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