# De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/de-novo-mutations-in-the-sodium-channel-gene-scn1a-cause-severe-myoclonic/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Lieve Claes,Jurgen Del‐Favero,Berten Ceulemans,Lieven Lagae,Christine Van Broeckhoven,Peter De Jonghe |
| Citations | 1,289 |
| DOI | 10.1086/320609 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S000292970761043X/pdf |
| OpenAlex ID | https://openalex.org/W2157702138 |
| PMID | 11359211 |
| Type | article |
| Year | 2001 |

## Paper authors

- [Lieven Lagae](https://scholariq.org/researchers/lieven-lagae/)

## Paper primary topic

- [Epilepsy research and treatment](https://scholariq.org/topics/epilepsy-research-and-treatment/)

## Paper topics

- [Epilepsy research and treatment](https://scholariq.org/topics/epilepsy-research-and-treatment/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Ion Transport and Channel Regulation](https://scholariq.org/topics/ion-transport-and-channel-regulation/)

---
Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.