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Article

Do the functional properties of HCN1 mutants correlate with the clinical features in epileptic patients?

Progress in biophysics and molecular biology - 1 Nov 2021

Porro Alessandro, Abbandonato Gerardo, Veronesi Valentina, Russo Alberto, Binda Anna, Antolini Laura, Granata Tiziana, Castellotti Barbara, Marini Carla, Moroni Anna, DiFrancesco Jacopo C, Rivolta Ilaria

Abstract excerpt

The altered function of the Hyperpolarization-activated Cyclic-Nucleotide-gated (HCN) ion channels plays an important role in the pathogenesis of epilepsy in humans. In particular, HCN1 missense mutations have been recently identified in patients with different epileptic phenotypes, varying from mild to severe. Their electrophysiological characterization shows that mutated channels can act both with...

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Epilepsy
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels
Infant
Mutation
Potassium Channels

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PMID: 34310985
DOI: 10.1016/j.pbiomolbio.2021.07.008

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