Varaico: Literature-Extracted Genetic Variants

Gene:KCNH1
Variant:p.N510T
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KCNH1

NM_172362.3:p.N510T

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

Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report.

Wang H et al.

Clinical Dysmorphology, 2021

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