KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

Abstract A recurrent de novo missense variant in KCNC1, encoding a voltage‐gated potassium channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and ataxia, and a nonsense variant is associated with intellectual disability. We identified three new de novo missense variants i...

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Bibliographic Details
Main Authors: Joohyun Park, Mahmoud Koko, Ulrike B. S. Hedrich, Andreas Hermann, Kirsten Cremer, Edda Haberlandt, Mona Grimmel, Bader Alhaddad, Stefanie Beck‐Woedl, Merle Harrer, Daniela Karall, Lisa Kingelhoefer, Andreas Tzschach, Lars C. Matthies, Tim M. Strom, Erich Bernd Ringelstein, Marc Sturm, Hartmut Engels, Markus Wolff, Holger Lerche, Tobias B. Haack
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.50799

Internet

https://doi.org/10.1002/acn3.50799

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