: The SALSA MLPA Probemix P166 KCNQ2 is a research use only (RUO)
assay for the detection of deletions or duplications in the KCNQ2
gene, which is associated with Benign familial neonatal convulsion (BFNC).
Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by defects in the KCNQ2
gene. BFNC is also known as benign neonatal epilepsy-1 (EBN1), and characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age.
: The SALSA MLPA Probemix P166-C2 KCNQ2 contains 32 MLPA probes with amplification products between 130 and 391 nt. This includes 18 probes for the KCNQ2
gene, one probe for each exon of the gene. Furthermore, it also contains three probes upstream of the KCNQ2
gene and one probe downstream of the KCNQ2
gene. In addition, ten reference probes are included and detect ten different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is 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 (see the Product Description). 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