A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy-Reference-Cited by-同舟云学术

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Published:2014-11-17 Issue:1 Volume:47 Page:39-46
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Muona Mikko^ORCID,Berkovic Samuel F,Dibbens Leanne M,Oliver Karen L,Maljevic Snezana,Bayly Marta A,Joensuu Tarja,Canafoglia Laura,Franceschetti Silvana,Michelucci Roberto,Markkinen Salla,Heron Sarah E,Hildebrand Michael S,Andermann Eva,Andermann Frederick,Gambardella Antonio,Tinuper Paolo,Licchetta Laura,Scheffer Ingrid E,Criscuolo Chiara,Filla Alessandro,Ferlazzo Edoardo,Ahmad Jamil^ORCID,Ahmad Adeel,Baykan Betul,Said Edith,Topcu Meral,Riguzzi Patrizia,King Mary D,Ozkara Cigdem,Andrade Danielle M,Engelsen Bernt A,Crespel Arielle,Lindenau Matthias,Lohmann Ebba,Saletti Veronica,Massano João^ORCID,Privitera Michael,Espay Alberto J,Kauffmann Birgit,Duchowny Michael,Møller Rikke S,Straussberg Rachel,Afawi Zaid,Ben-Zeev Bruria,Samocha Kaitlin E,Daly Mark J,Petrou Steven,Lerche Holger,Palotie Aarno,Lehesjoki Anna-Elina

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3144.pdf

Reference79 articles.

1. Berkovic, S.F., Andermann, F., Carpenter, S. & Wolfe, L.S. Progressive myoclonus epilepsies: specific causes and diagnosis. N. Engl. J. Med. 315, 296–305 (1986).

2. Shahwan, A., Farrell, M. & Delanty, N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol. 4, 239–248 (2005).

3. Franceschetti, S. et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology 82, 405–411 (2014).

4. Pennacchio, L.A. et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271, 1731–1734 (1996).

5. Berkovic, S.F. et al. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am. J. Hum. Genet. 82, 673–684 (2008).

Cited by 240 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Heterozygous Phospholamban Variant (p.R14del) Leads to Left Ventricular Involvement and Heart Failure Phenotypes in Arrhythmogenic Right Ventricular Cardiomyopathy;Phenomics;2024-01-29

2. Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances;Genes;2024-01-27

4. A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction;Proceedings of the National Academy of Sciences;2024-01-09

5. Single-cell RNA sequencing in donor and end-stage heart failure patients identifies NLRP3 as a therapeutic target for arrhythmogenic right ventricular cardiomyopathy;BMC Medicine;2024-01-08