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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2006-5-11
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pubmed:abstractText |
A large multigenerational family with benign familial neonatal convulsions (BFNC) was revisited to identify the disease-causing mutation and to assess long-term outcome.
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pubmed:language |
eng
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pubmed:journal |
|
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0013-9580
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pubmed:author |
pubmed-author:Bele?L MLM,
pubmed-author:BoezemanEduardE,
pubmed-author:BoonPaulP,
pubmed-author:CartonDietbrandtD,
pubmed-author:HalleyDickyD,
pubmed-author:KoelemanBobby P CBP,
pubmed-author:LindhoutDickD,
pubmed-author:PetersEdithE,
pubmed-author:PintoDalilaD,
pubmed-author:VandereykenWillemW,
pubmed-author:WapenaarMartin CMC,
pubmed-author:WitteJorienJ,
pubmed-author:de HaanGerrit-JanGJ,
pubmed-author:van ErpGerardG
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pubmed:issnType |
Print
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pubmed:volume |
47
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
851-9
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:16686649-Adolescent,
pubmed-meshheading:16686649-Adult,
pubmed-meshheading:16686649-Child,
pubmed-meshheading:16686649-Child, Preschool,
pubmed-meshheading:16686649-Chromosomes, Human, Pair 20,
pubmed-meshheading:16686649-Chromosomes, Human, Pair 8,
pubmed-meshheading:16686649-DNA Mutational Analysis,
pubmed-meshheading:16686649-Epilepsy, Benign Neonatal,
pubmed-meshheading:16686649-Epilepsy, Reflex,
pubmed-meshheading:16686649-Family,
pubmed-meshheading:16686649-Female,
pubmed-meshheading:16686649-Genetic Linkage,
pubmed-meshheading:16686649-Genetic Variation,
pubmed-meshheading:16686649-Humans,
pubmed-meshheading:16686649-Infant,
pubmed-meshheading:16686649-Infant, Newborn,
pubmed-meshheading:16686649-KCNQ2 Potassium Channel,
pubmed-meshheading:16686649-Leukocytes,
pubmed-meshheading:16686649-Longitudinal Studies,
pubmed-meshheading:16686649-Male,
pubmed-meshheading:16686649-Mutation,
pubmed-meshheading:16686649-Pedigree,
pubmed-meshheading:16686649-Phenotype,
pubmed-meshheading:16686649-RNA,
pubmed-meshheading:16686649-RNA Splice Sites,
pubmed-meshheading:16686649-RNA Splicing,
pubmed-meshheading:16686649-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:16686649-Reverse Transcription
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pubmed:year |
2006
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pubmed:articleTitle |
A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.
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pubmed:affiliation |
Epilepsy Institute of The Netherlands, Heemstede, Netherlands.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|
