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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2007-12-6
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pubmed:abstractText |
Benign familial neonatal seizures are most often caused by mutations in the voltage-gated potassium channel subunit gene KCNQ2. More than 60 mutations have been described in BFNS families, approximately half of which lead to protein truncation. The hypothesis of this study was that deletion or duplication of >or=1 exons of KCNQ2 could cause BFNS in cases without coding or splicing mutations.
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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 |
Dec
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pubmed:issn |
1468-6244
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
44
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
791-6
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pubmed:dateRevised |
2011-3-1
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pubmed:meshHeading |
pubmed-meshheading:17675531-Adult,
pubmed-meshheading:17675531-Child, Preschool,
pubmed-meshheading:17675531-DNA Mutational Analysis,
pubmed-meshheading:17675531-Epilepsy,
pubmed-meshheading:17675531-Epilepsy, Benign Neonatal,
pubmed-meshheading:17675531-Exons,
pubmed-meshheading:17675531-Female,
pubmed-meshheading:17675531-Gene Deletion,
pubmed-meshheading:17675531-Gene Duplication,
pubmed-meshheading:17675531-Humans,
pubmed-meshheading:17675531-Infant,
pubmed-meshheading:17675531-Infant, Newborn,
pubmed-meshheading:17675531-KCNQ2 Potassium Channel,
pubmed-meshheading:17675531-Male,
pubmed-meshheading:17675531-Middle Aged,
pubmed-meshheading:17675531-Nucleic Acid Amplification Techniques,
pubmed-meshheading:17675531-Pedigree,
pubmed-meshheading:17675531-Phenotype,
pubmed-meshheading:17675531-Polymerase Chain Reaction,
pubmed-meshheading:17675531-Sequence Analysis, DNA
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pubmed:year |
2007
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pubmed:articleTitle |
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
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pubmed:publicationType |
Letter,
Research Support, Non-U.S. Gov't
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