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Article

Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.

International journal of molecular sciences - 22 Jul 2022

Dinoi Giorgia, Morin Michael, Conte Elena, Mor Shaked Hagar, Coppola Maria Antonietta, D'Adamo Maria Cristina, Elpeleg Orly, Liantonio Antonella, Hartmann Inbar, De Luca Annamaria, Blunck Rikard, Russo Angelo, Imbrici Paola

Abstract excerpt

Mutations in the KCNA1 gene, encoding the voltage-gated potassium channel Kv1.1, have been associated with a spectrum of neurological phenotypes, including episodic ataxia type 1 and developmental and epileptic encephalopathy. We have recently identified a de novo variant in KCNA1 in the highly conserved Pro-Val-Pro motif within the pore of the Kv1.1 channel in a girl affected by early onset epilepsy, ataxia and...

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PMID: 35897654
DOI: 10.3390/ijms23158079
PMCID: PMC9331732

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Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.PMID 35897654Read ↗

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