De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
ContributorsKorff, Christian
Published inNature genetics, vol. 47, no. 4, p. 393-399
Publication date2015
Abstract
Keywords
- Adult
- Amino Acid Sequence
- Child
- Child, Preschool
- Cohort Studies
- Epilepsy/genetics
- Female
- Genetic Predisposition to Disease
- Humans
- Infant
- Kv1.2 Potassium Channel/genetics
- Male
- Mutation
- Pedigree
- Spasms, Infantile/genetics
- Young Adult
Affiliation entities
Citation (ISO format)
KORFF, Christian. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. In: Nature genetics, 2015, vol. 47, n° 4, p. 393–399. doi: 10.1038/ng.3239
Main files (1)
Article (Published version)
Identifiers
- PID : unige:76382
- DOI : 10.1038/ng.3239
- PMID : 25751627
Journal ISSN1061-4036
