General information: The SALSA MLPA Probemix P197 KCNQ3 is a research use only (RUO) assay for the detection of deletions or duplications in the KCNQ3, CHRNA4, EPM2A, NHLRC1 (also known as EPM2B), and CHRNB2 genes, which are associated with Epilepsy.

Defects in the KCNQ3 gene can cause benign familial neonatal convulsions type 2 (BFNC2) or benign neonatal type 2 (EBN2), which is also known as epilepsy. The KCNQ3 gene comprises 15 exons and spans ~360 kb of genomic DNA on chromosome 8q24.22. The CHRNA4 gene comprises 6 exons spanning ~18 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. 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 ~111 kb of genomic DNA on chromosome 6q24.3. The NHLRC1 (EPM2B) gene encoding the malin protein, comprises 1 exon and spans ~1.2 kb of genomic DNA on chromosome 6p22.3. Mutations in NHLRC1 cause progressive myoclonus epilepsy and are also associated with autosomal dominant nocturnal frontal lobe epilepsy. The CHRNB2 gene comprises 6 exons spanning ~12.2 kb of genomic DNA on chromosome 1q21.3. Finally, the KCNQ1 gene comprises 17 exons and spans ~404 kb of genomic DNA on chromosome 11p15.5-4.

This SALSA MLPA Probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content: The SALSA MLPA Probemix P197-A4 KCNQ3 contains 39 MLPA probes with amplification products between 137 and 463 nucleotides (nt). This includes 15 probes for the KCNQ3 gene, , six probes for the CHRNA4 gene, four probes for the EPM2A gene, two probes for NHLRC1 gene, two probes for the CHRNB2 gene, and finally two probes for the KCNQ1 gene. In addition, eight reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mlpa.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.