Article
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.
Epilepsia - 1 Feb 2023
Salpietro Vincenzo, Galassi Deforie Valentina, Efthymiou Stephanie, O'Connor Emer, Marcé-Grau Anna, Maroofian Reza, Striano Pasquale, Zara Federico, Morrow Michelle M, Reich Adi, Blevins Amy, Sala-Coromina Júlia, Accogli Andrea, Fortuna Sara, Alesandrini Marie, Au P Y Billie, Singhal Nilika Shah, Cogne Benjamin, Isidor Bertrand, Hanna Michael G, Macaya Alfons, Kullmann Dimitri M, Houlden Henry, Männikkö Roope
Abstract excerpt
OBJECTIVE: Mutations in the genes encoding neuronal ion channels are a common cause of Mendelian neurological diseases. We sought to identify novel de novo sequence variants in cases with early infantile epileptic phenotypes and neurodevelopmental anomalies. METHODS: Following clinical diagnosis, we performed whole exome sequencing of the index cases and their parents. Identified channel variants were expressed...
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