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SALSA MLPA KIT P197 KCNQ3
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
Epilepsy can be caused by mutations in of one or more exons of the KCNQ3, CHRNA4, EPM2A, NHLRC1 (also known as EPM2B or malin) and CHRNB2 genes. Defects in the KCNQ3 gene can cause benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). The KCNQ3 gene comprises 15 exons and spans 352 kb of genomic DNA on chromosome 8q24.22. This MLPA P197 KCNQ3 probemix contains 14 probes for KCNQ3 exons. No probe is present for exon 7. The CHRNA4 gene comprises 6 exons, spanning 16 kb of genomic DNA on chromosome 20q13.33. Mutations in this gene appear to account for a small proportion of the cases of nocturnal frontal lobe epilepsy. This MLPA P197 KCNQ3 probemix contains 5 probes for CHRNA4 exons. No probes are present for exon 1. Mutations in the EPM2A gene have been associated with myoclonic epilepsy of Lafora. The EPM2A gene encodes the laforin protein, comprises 4 exons and spans 109 kb of genomic DNA on chromosome 6q24.3. This MLPA P197 KCNQ3 probemix contains probes for each of the four EPM2A exons. The NHLRC1 (EPM2B) gene encodes the malin protein, comprises 1 exon and spans 1.5 kb of genomic DNA on chromosome 6p22.3. Mutations in EPM2B / NHLRC1 cause progressive myoclonus epilepsy. This probemix contains 2 probes for NHLRC1. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. The CHRNB2 gene comprises 6 exons and spans 8.5 kb of genomic DNA on chromosome 1q21.3. This MLPA P197 KCNQ3 probe mix contains probes for two CHRNB2 exons.
Full mix description (word)
Full mix description (pdf)
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
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Last update probemix description Last change in probemix content Current lot number
: vs. 04; 02-01-2007 : lot 1206 (December 2006) : lot 1206
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