KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants.
Happ, H.C., Sadleir, L.G., Zemel, M., de Valles-Ibáñez, G., Hildebrand, M.S., McConkie-Rosell, A., et al. (2023). Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5. NEUROLOGY, 100(6), e603-e615 [10.1212/WNL.0000000000201492].
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5
Bisulli, Francesca;
2023
Abstract
KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants.File in questo prodotto:
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