Article
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Neurology - 17 May 2022
Schwarz Niklas, Seiffert Simone, Pendziwiat Manuela, Rademacher Annika Verena, Brünger Tobias, Hedrich Ulrike B S, Augustijn Paul B, Baier Hartmut, Bayat Allan, Bisulli Francesca, Buono Russell J, Bruria Ben Zeev, Doyle Michael G, Guerrini Renzo, Heimer Gali, Iacomino Michele, Kearney Hugh, Klein Karl Martin, Kousiappa Ioanna, Kunz Wolfram S, Lerche Holger, Licchetta Laura, Lohmann Ebba, Minardi Raffaella, McDonald Marie, Montgomery Sarah, Mulahasanovic Lejla, Oegema Renske, Ortal Barel, Papacostas Savvas S, Ragona Francesca, Granata Tiziana, Reif Phillip S, Rosenow Felix, Rothschild Annick, Scudieri Paolo, Striano Pasquale, Tinuper Paolo, Tanteles George A, Vetro Annalisa, Zahnert Felix, Goldberg Ethan M, Zara Federico, Lal Dennis, May Patrick, Muhle Hiltrud, Helbig Ingo, Weber Yvonne
Abstract excerpt
BACKGROUND AND OBJECTIVES: KCNC2 encodes Kv3.2, a member of the Shaw-related (Kv3) voltage-gated potassium channel subfamily, which is important for sustained high-frequency firing and optimized energy efficiency of action potentials in the brain. The objective of this study was to analyze the clinical phenotype, genetic background, and biophysical function of disease-associated Kv3.2 variants. METHODS:...
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