Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy
Published inHuman mutation, vol. 33, no. 1, p. 124-135
Publication date2012-01
First online date2011-09-15
Abstract
Keywords
- Adolescent
- Adult
- Carboxypeptidases A / genetics
- Carboxypeptidases A / metabolism
- Child
- Child, Preschool
- Chromosomes, Human, Pair 8 / genetics
- Chromosomes, Human, Pair 8 / metabolism
- Consanguinity
- DNA Mutational Analysis
- Epilepsies, Partial / complications
- Epilepsies, Partial / enzymology
- Epilepsies, Partial / genetics
- Epilepsy, Temporal Lobe / complications
- Epilepsy, Temporal Lobe / enzymology
- Epilepsy, Temporal Lobe / genetics
- Exons
- Female
- Genes, Recessive
- Genetic Linkage
- Genetic Loci
- Genome-Wide Association Study
- Genotype
- Homozygote
- Humans
- Infant
- Male
- Mutation, Missense
- Pedigree
- Polymorphism, Single Nucleotide
- Seizures, Febrile / complications
- Seizures, Febrile / enzymology
- Seizures, Febrile / genetics
Citation (ISO format)
SALZMANN, Annick et al. Carboxypeptidase A6 gene (<i>CPA6</i>) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. In: Human mutation, 2012, vol. 33, n° 1, p. 124–135. doi: 10.1002/humu.21613
Main files (1)
Article (Published version)
Secondary files (1)
Identifiers
- PID : unige:161989
- DOI : 10.1002/humu.21613
- PMID : 21922598
Commercial URLhttps://onlinelibrary.wiley.com/doi/10.1002/humu.21613
ISSN of the journal1059-7794