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De novo KCNA6 variants with attenuated 1.6 channel deactivation in patients with epilepsy / Salpietro, Vincenzo (University of L'Aquila) ; Galassi Deforie, Valentina (University College London) ; Efthymiou, Stephanie (University College London) ; O'Connor, Emer (University College London) ; Marcé-Grau, Anna (Hospital Universitari Vall d'Hebron) ; Maroofian, Reza (University College London) ; Striano, Pasquale (Istituto "Giannina Gaslini") ; Zara, Federico (Istituto "Giannina Gaslini") ; Morrow, Michelle M. (GeneDx) ; Reich, Adi (GeneDx) ; Blevins, Amy (GeneDx) ; Sala-Coromina, Júlia (Hospital Universitari Vall d'Hebron) ; Accogli, Andrea (Istituto "Giannina Gaslini") ; Fortuna, Sara (Istituto Italiano di Tecnologia (IIT)) ; Alesandrini, Marie (Centre Hospitalier Universitaire Nantes) ; Au, P. Y. Billie (University of Calgary) ; Singhal, Nilika Shah (University of California) ; Cogne, Benjamin (L'Institut du Thorax) ; Isidor, Bertrand (L'Institut du Thorax) ; Hanna, Michael G. (National Hospital for Neurology and Neurosurgery) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ; Kullmann, Dimitri M. (University College London) ; Houlden, Henry (University College London) ; Männikkö, Roope (University College London) ; Universitat Autònoma de Barcelona
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. [...]
2022 - DOI (Digital Object Identifier)

10.1111/epi.17455
Epilepsia, Vol. 64 (december 2022) , p. 443-455

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