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SALSA MLPA Probemix P137 SCN1A

SALSA® MLPA® Probemix P137 SCN1A detects copy number variations in the SCN1A gene.

Specifications

Contents: 40 MLPA probes, including 30 probes for SCN1A covering all 26 coding exons, the first non coding exon of SCN1A (exon hB) and the upstream region (exon hA and exon 1 of transcript variant 4).

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: Dravet syndrome (DS) and other SCN1A-related seizure disorders, and familial hemiplegic migraine 3 (FHM3).

CE-marked for in vitro diagnostic (IVD) use.

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Intended purpose

The SALSA MLPA Probemix P137 SCN1A is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in SCN1A gene in genomic DNA isolated from human peripheral whole blood specimens. P137 SCN1A is intended to confirm a potential cause for and clinical diagnosis of Dravet syndrome (DS) and other SCN1A-related seizure disorders, and for Familial hemiplegic migraine 3 (FHM3).

For the full intended purpose, see the product description.

Clinical background

SCN1A-related seizure disorders include at the severe end of the spectrum DS and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC), and at the mild end simple febrile seizures (FS) and generalized epilepsy with febrile seizures plus (GEFS+). Myoclonic-astatic epilepsy (MAE or Doose syndrome), Lennox-Gastaut syndrome (LGS), infantile spasms, and vaccine-related encephalopathy and seizures are the less commonly observed phenotypes.

SCN1A-related seizure disorders are inherited in an autosomal dominant manner. Pathogenic variants may be inherited or de novo. The percentage of cases with de novo mutations increases as the severity of the phenotype increases. The SCN1A-related seizures phenotype varies even among family members with the same pathogenic variant.

DS (OMIM # 607208, also known as severe myoclonic epilepsy in infancy (SMEI), early infantile epileptic encephalopathy 6 (EIEE6), and polymorphic myoclonic epilepsy in infancy (PMEI)) is a rare lifelong form of epilepsy that begins in the first year of life. DS is associated with heterozygous mutations in the SCN1A gene. The frequency of SCN1A mutations in DS patients is approximately 70-80%, most of the mutations being de novo (Marini et al. 2009). Apparent de novo sporadic mutations may also be the result of germline mosaicism in apparently unaffected parents (de Lange et al. 2018). Somatic mosaic deletions of the SCN1A gene have also been identified in individuals with DS (Nakayama et al. 2018). DS is defined by prolonged and frequent seizures that do not remit, and normally evolve to include myoclonic seizures. Other symptoms of DS are behavioural and developmental delay, movement and balance problems, hyperactivity and sleep difficulties.

ICE-GTC is characterized by generalized seizures including absence seizures and generalized tonic-clonic seizures with onset in infancy or childhood. Children with frequent generalized tonic-clonic seizures often develop cognitive impairment. FS are characterized by childhood seizures that occur only in association with fever (higher than 38°C). The age of onset is 6 months, and the seizures resolve by the age of 5 years old. Generalized epilepsy with febrile seizures plus (GEFS+) refers to findings in a family instead of an individual. The seizure phenotypes tend toward the mild end of the spectrum. Affected individuals within a family with GEFS+ often have FS in early childhood, followed by occasional tonic, clonic, myoclonic, or absence seizures which respond to medication and remit by late childhood or early adolescence.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1318/.

Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. FHM3 is caused by mutations in the SCN1A gene. More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1388/.

Regulatory status

SALSA MLPA Probemix P137 SCN1A is CE-marked for in vitro diagnostic (IVD) use.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version C1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P137-025R
SALSA MLPA Probemix P137 SCN1A – 25 rxn
MLPA
€ 281.00
P137-050R
SALSA MLPA Probemix P137 SCN1A – 50 rxn
MLPA
€ 550.00
P137-100R
SALSA MLPA Probemix P137 SCN1A – 100 rxn
MLPA
€ 1075.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00
How to Order

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

The commercially available positive samples below have been tested with the current (C1) version of this product and have been shown to produce useful results.

Resources

General resources

Learning

Publications

References

  • De Lange IM et al. (2018). Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes. Epilepsia. 59:690-703.
  • Marini C et al. (2009). SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia. 50:1670-8.
  • Nakayama T et al. (2018). Somatic mosaic deletions involving SCN1A cause Dravet syndrome. Am J Med Genet A. 176:657-62.
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CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.