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Article

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.

Human mutation - 1 Jan 2012

Salzmann Annick, Guipponi Michel, Lyons Peter J, Fricker Lloyd D, Sapio Matthew, Lambercy Carmen, Buresi Catherine, Ouled Amar Bencheikh Bouchra, Lahjouji Fatiha, Ouazzani Reda, Crespel Arielle, Chaigne Denys, Malafosse Alain

Abstract excerpt

Febrile seizures (FS) and temporal lobe epilepsy (TLE) were found in four of the seven siblings born to healthy Moroccan consanguineous parents. We hypothesized autosomal recessive (AR) inheritance. Combined linkage analysis and autozygosity mapping of a genome-wide single nucleotide polymorphism genotyping identified a unique identical by descent (IBD) locus of 9.6 Mb on human chromosome 8q12.1-q13.2. Sequencing...

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Share to Chromosomes, Human, Pair 8
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsies, Partial

Share to Epilepsy, Temporal Lobe

Share to Genes, Recessive

Share to Genetic Loci

Share to Mutation, Missense

Share to Seizures, Febrile

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Identifiers

PMID: 21922598
DOI: 10.1002/humu.21613

Genes

CPA6

Variants

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