HCN1 epilepsy: From genetics and mechanisms to precision therapies

Abstract excerpt

Pathogenic variation in HCN1 is now an established cause of epilepsy and intellectual disability. Variation in HCN1 causes a spectrum of disease with a genotype-phenotype relationship emerging. De novo pathogenic variants that occur in the transmembrane domains of the channel typically cause a cation 'leak' that associates with severe developmental and epileptic encephalopathy (DEE). Genotype-phenotype...

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