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

Volumn 33, Issue 1, 2012, Pages 124-135

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

^a UNIVERSITY OF GENEVA   (Switzerland)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^d IBN SINA HOSPITAL   (Morocco)

^e MONTPELLIER UNIVERSITY HOSPITAL   (France)

^f Clinique Sainte Odile   (France)

Author keywords

Autosomal recessive; Autozygosity mapping; CPA6; Febrile seizures; Linkage analysis; Temporal lobe epilepsy

Indexed keywords

CARBOXYPEPTIDASE A6; PEPTIDE HYDROLASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; ENZYME BINDING; ENZYME RELEASE; EXTRACELLULAR MATRIX; FAMILIAL DISEASE; FEBRILE CONVULSION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TEMPORAL LOBE EPILEPSY;

ADOLESCENT; ADULT; CARBOXYPEPTIDASES A; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 8; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EPILEPSIES, PARTIAL; EPILEPSY, TEMPORAL LOBE; 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;

EID: 84856460055     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21613     Document Type: Article

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