| Title |
Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions
|
|---|---|
| Published in |
Human Genetics, April 1999
|
| DOI | 10.1007/pl00008713 |
| Pubmed ID | |
| Authors |
Christian Biervert, O. K. Steinlein |
| Abstract |
Mutations in the voltage-gated potassium channel gene KCNQ2 on chromosome 20q13.3 are responsible for benign familial neonatal convulsions (BFNC), a rare monogenic idiopathic epilepsy. Here we report the determination of the detailed genomic structure of KCNQ2, and use of this information in mutational analysis. There are at least 18 exons, occupying more than 50 kb of genomic DNA. Several formerly unknown polymorphisms and splice variants as well as a new single base pair deletion mutation of unusual localization are described. In addition to facilitating more effective mutation detection among BFNC patients, the results presented here provide the basis for analysing the role of KCNQ2 in other types of epilepsy. |
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Attention Score in Context
This research output has an Altmetric Attention Score of 6. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 October 2008.
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#5,446,210
of 25,371,288 outputs
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#515
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#5,576
of 37,033 outputs
Outputs of similar age from Human Genetics
#2
of 14 outputs
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