General Information: The SALSA MLPA Probemix P408 ADLTE-LGI1 is a research use only (RUO) assay for the detection of deletions or duplications in ADAM22, GPR98, KCNA1, KCNA4, KCNAB1, LGI1 and PDYN genes, which are associated with autosomal dominant lateral temporal epilepsy (ADLTE).

Autosomal dominant lateral temporal epilepsy (ADLTE), also known as autosomal dominant partial epilepsy with auditory features (ADPEAF), is a rare familial form of epilepsy likely arising from the lateral temporal lobe of the brain. The condition is characterized by recurrent partial seizures and ictal auditory features.

Probemix content: The SALSA MLPA Probemix P408-A2 ADLTE-LGI1 contains 48 MLPA probes with amplification products between 130 and 500 nt. This includes ten probes for the KCNAB1 gene, six probes for the GPR98 gene, six probes for the ADAM22 gene, ten probes for the LGI1 gene, three probes for the KCNA4 gene, two probes for the KCNA1 gene, and one probe for the PDYN 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. 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.