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

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 in KCNC1 i...

全面介紹

Na minha lista:
書目詳細資料
發表在:Ann Clin Transl Neurol
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2019
主題:
Brief Communications
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6649617/
https://ncbi.nlm.nih.gov/pubmed/31353862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50799
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍