Associated Papers
A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy.
Mitsutake A et al.
Internal Medicine (tokyo, Japan), 2025
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
38374498 (PubMed )
Supplement: EMS195231-supplement-Supplementary_tables.xlsx › S3_Published
Clinical phenotypes of developmental and epileptic encephalopathy-related recurrent KCNH5 missense variant p.R327H in Chinese children.
Huang S et al.
Epilepsy & Behavior Reports, 2024
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Happ HC et al.
Neurology, 2023
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