A novel GEFS+ locus on 12p13.33 in a large Roma family

Epilepsy Research

Volumn 97, Issue 1-2, 2011, Pages 198-207

  Morar, Bharti ^a   Zhelyazkova, Sashka ^b   Azmanov, Dimitar N ^a   Radionova, Melania ^b   Angelicheva, Dora ^a   Guergueltcheva, Velina ^b   Kaneva, Radka ^c   Scheffer, Ingrid E ^d   Tournev, Ivailo ^b,e   Kalaydjieva, Luba ^a   Sander, Josemir W ^f,g  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^c UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e NEW BULGARIAN UNIVERSITY   (Bulgaria)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g STICHTING EPILEPSIE INSTELLINGEN NEDERLAND SEIN   (Netherlands)

Author keywords

Epilepsy genetic loci; Founder population; GEFS+; Heterogeneity; Roma Gypsies

Indexed keywords

ARTICLE; CHROMOSOME 12P; CLINICAL ASSESSMENT; CONSANGUINITY; CONTROLLED STUDY; ERC1 GENE; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; FOLLOW UP; GENE; GENE LOCUS; GENERALIZED EPILEPSY; GENETIC DISTANCE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOME ANALYSIS; GIPSY; HAPLOTYPE; HUMAN; INBREEDING; MALE; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SLC6A12 GENE; SLC6A13 GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 12; CONSANGUINITY; EPILEPSY, GENERALIZED; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GABA PLASMA MEMBRANE TRANSPORT PROTEINS; GYPSIES; HUMANS; LOD SCORE; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; SEIZURES, FEBRILE;

EID: 81055140403     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2011.08.009     Document Type: Article

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