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.
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants / Niklas Schwarz , Simone Seiffert , Manuela Pendziwiat , Annika Verena Rademacher , Tobias Brünger , Ulrike B S Hedrich , Paul B Augustijn , Hartmut Baier , Allan Bayat , Francesca Bisulli , Russell J Buono , Ben Zeev Bruria , Michael G Doyle , Renzo Guerrini , Gali Heimer , Michele Iacomino , Hugh Kearney , Karl Martin Klein , Ioanna Kousiappa , Wolfram S Kunz , Holger Lerche , Laura Licchetta , Ebba Lohmann , Raffaella Minardi , Marie McDonald , Sarah Montgomery , Lejla Mulahasanovic , Renske Oegema , Barel Ortal , Savvas S Papacostas , Francesca Ragona , Tiziana Granata , Phillip S Reif , Felix Rosenow , Annick Rothschild , Paolo Scudieri , Pasquale Striano , Paolo Tinuper , George A Tanteles , Annalisa Vetro , Felix Zahnert , Ethan M Goldberg , Federico Zara , Dennis Lal , Patrick May , Hiltrud Muhle , Ingo Helbig , Yvonne Weber. - In: NEUROLOGY. - ISSN 0028-3878. - ELETTRONICO. - 98:(2022), pp. 2046-2059. [10.1212/WNL.0000000000200660]
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
Renzo Guerrini;
2022
Abstract
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.
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