# A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/a-recurrent-de-novo-mutation-in-kcnc1-causes-progressive-myoclonus-epilepsy/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Mikko Muona,Samuel F. Berkovic,Leanne M. Dibbens,Karen Oliver,Snezana Maljevic,Marta A. Bayly,Tarja Joensuu,Laura Canafoglia,Silvana Franceschetti,Roberto Michelucci,Salla Markkinen,Sarah E. Heron,Michael S. Hildebrand,Eva Andermann,Frédérick Andermann,Antonio Gambardella,Paolo Tinuper,Laura Licchetta,Ingrid E. Scheffer,Chiara Criscuolo,Alessandro Filla,Edoardo Ferlazzo,Jamil Ahmad,Adeel Ahmad,Betül Baykan,Edith Said,Meral Topçu,P. Riguzzi,Mary D. King,Çiğdem Özkara,Danielle M. Andrade,Bernt A. Engelsen,Arielle Crespel,Matthias Lindenau,Ebba Lohmann,Veronica Saletti,João Massano,Michael Privitera,Alberto J. Espay,Birgit Kauffmann,Michael Duchowny,Rikke S. Møller,Rachel Straussberg,Zaid Afawi,Bruria Ben‐Zeev,Kaitlin E. Samocha,Mark J. Daly,Steven Petrou,Holger Lerche,Aarno Palotie,Anna-Elina Lehesjoki |
| Citations | 316 |
| DOI | 10.1038/ng.3144 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | http://hdl.handle.net/11585/515030 |
| OpenAlex ID | https://openalex.org/W2026050615 |
| PMID | 25401298 |
| Type | article |
| Year | 2014 |

## Paper authors

- [Ingrid E. Scheffer](https://scholariq.org/researchers/ingrid-e-scheffer/)
- [Betül Baykan](https://scholariq.org/researchers/betul-baykan/)

## Paper primary topic

- [Glycogen Storage Diseases and Myoclonus](https://scholariq.org/topics/glycogen-storage-diseases-and-myoclonus/)

## Paper topics

- [Glycogen Storage Diseases and Myoclonus](https://scholariq.org/topics/glycogen-storage-diseases-and-myoclonus/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Neurological disorders and treatments](https://scholariq.org/topics/neurological-disorders-and-treatments/)

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