EIEE6; FEB3; FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI
The SCN1A gene is associated with a spectrum of autosomal dominant SCN1A-related seizure disorders ranging from simple febrile seizures (MedGen UID: 338959) and genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 388117) to Dravet syndrome (MedGen UID: 148243) and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) (MedGen UID: 148243). Other SCN1A-related conditions have been reported (OMIM: 607208).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in the SCN1A gene are associated with 5-10% of generalized epilepsy with febrile seizures plus and ~70% of early infantile epileptic encephalopathy (EIEE) (Dravet syndrome).
Voltage-gated sodium channels allow sodium ions into the cell after the application of a current, as in the case of neuron firing (depolarization). The SCN1A gene encodes an alpha subunit of a voltage-gated sodium channel expressed in the central nervous system that is required for sustaining the action potential as it travels along the axon (PMID: 22473783).
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|