KCNC1-related disorders: New de novo variants expand the phenotypic spectrum

Autor: Park, Joohyun, Koko, Mahmoud, Hedrich, Ulrike B. S., Hermann, Andreas, Cremer, Kirsten, Haberlandt, Edda, Grimmel, Mona, Alhaddad, Bader, Beck‐Woedl, Stefanie, Harrer, Merle, Karall, Daniela, Kingelhoefer, Lisa, Tzschach, Andreas, Matthies, Lars C., Strom, Tim M., Ringelstein, Erich Bernd, Sturm, Marc, Engels, Hartmut, Wolff, Markus, Lerche, Holger, Haack, Tobias B.

Publikováno v: Ann. Clin. Transl. Neurol. 6, 1319-1326 (2019)
Annals of Clinical and Translational Neurology 6(7), 1319-1326 (2019). doi:10.1002/acn3.50799
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1319-1326 (2019)
Annals of Clinical and Translational Neurology

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 ident

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