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SALSA MLPA Probemix P408 ADLTE-LGI1

Lateral temporal epilepsy, autosomal dominant (ADLTE)

Region: ADAM22 7q21.12; GPR98 5q14.3; KCNA1 12p13.32; KCNA4 11p14.1; KCNAB1 3q25.31; LGI1 10q23.33; PDYN 20p13

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.

Order Items

Probemix

Item no.
Description
Technology
Price
P408-025R
SALSA MLPA Probemix P408 ADLTE-LGI1 – 25 rxn
€ 243.00
P408-050R
SALSA MLPA Probemix P408 ADLTE-LGI1 – 50 rxn
€ 486.00
P408-100R
SALSA MLPA Probemix P408 ADLTE-LGI1 – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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Improved Dec 18, 2019

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GLUT1 deficiency syndrome, STXBP1-Encephalopathy with epilepsy, Ohtahara syndrome, contains probes for the SLC2A1 and STXBP1 genes.

SALSA MLPA Probemix P166 KCNQ2

Benign neonatal type 1 epilepsy (EBN1); contains probes for the KCNQ2 gene.

SALSA MLPA Probemix P197 KCNQ3

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