Benign adult familial myoclonic epilepsy (BAFME): Evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families

Neurogenetics

Volumn 9, Issue 2, 2008, Pages 139-142

  Madia, Francesca ^a   Striano, Pasquale ^b,c   Di Bonaventura, Carlo ^d   De Falco, Arturo ^e   De Falco, Fabrizio A ^e   Manfredi, Mario ^d   Casari, Giorgio ^f   Striano, Salvatore ^b   Minetti, Carlo ^c   Zara, Federico ^c  

^a Laboratory of Human Genetics   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e Loreto Nuovo Hospital   (Italy)

^f SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

BAFME; Cortical tremor; Epilepsy; Haplotype; Myoclonus

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY; CHROMOSOME 2P; CHROMOSOME 8Q; CONTROLLED STUDY; DNA DETERMINATION; FAMILY STUDY; FOUNDER EFFECT; GENE FREQUENCY; GENE SEGREGATION; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; ITALY; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MYOCLONUS EPILEPSY; PENETRANCE; PRIORITY JOURNAL; SCORING SYSTEM;

ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; EPILEPSIES, MYOCLONIC; FEMALE; FOUNDER EFFECT; GENES, DOMINANT; GENETIC MARKERS; GENOTYPE; HAPLOTYPES; HUMANS; ITALY; LOD SCORE; MALE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 42149183002     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0118-4     Document Type: Article

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