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11879364
Source:
http://linkedlifedata.com/resource/pubmed/id/11879364
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Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0037769
,
umls-concept:C0205210
,
umls-concept:C0241888
,
umls-concept:C0441748
,
umls-concept:C0598429
,
umls-concept:C2348519
pubmed:issue
12
pubmed:dateCreated
2002-3-6
pubmed:abstractText
To describe the clinical features of a large kindred with familial infantile myoclonic epilepsy (FIME) with autosomal recessive inheritance, and to discuss the nosology of the early infantile myoclonic epilepsies (IMEs).
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/2983306R
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0013-9580
pubmed:author
pubmed-author:BricarelliF DFD
,
pubmed-author:MajelloLL
,
pubmed-author:SantangeloRR
,
pubmed-author:StabileMM
,
pubmed-author:ZarbGG
,
pubmed-author:de FalcoF AFA
pubmed:issnType
Print
pubmed:volume
42
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1541-8
pubmed:dateRevised
2009-11-3
pubmed:meshHeading
pubmed-meshheading:11879364-Adult
,
pubmed-meshheading:11879364-Child
,
pubmed-meshheading:11879364-Chromosome Aberrations
,
pubmed-meshheading:11879364-Chromosome Mapping
,
pubmed-meshheading:11879364-Chromosomes, Human, Pair 16
,
pubmed-meshheading:11879364-Electroencephalography
,
pubmed-meshheading:11879364-Epilepsies, Myoclonic
,
pubmed-meshheading:11879364-Family
,
pubmed-meshheading:11879364-Female
,
pubmed-meshheading:11879364-Gene Expression
,
pubmed-meshheading:11879364-Genes, Recessive
,
pubmed-meshheading:11879364-Humans
,
pubmed-meshheading:11879364-Male
,
pubmed-meshheading:11879364-Middle Aged
,
pubmed-meshheading:11879364-Pedigree
,
pubmed-meshheading:11879364-Phenotype
pubmed:year
2001
pubmed:articleTitle
Familial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance.
pubmed:affiliation
Department of Neurological Sciences, Loreto Mare Hospital, Naples, Italy. defalco@tin.it
pubmed:publicationType
Journal Article