Gene:
SCN1A
sodium channel, voltage-gated, type I, alpha subunit

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs10188577 166915897T>C, 17125315T>C, 19253A>G, 265-699A>G
T > C
Intronic
No VIP available CA VA
rs2298771
C > T
Not Available
Ala1056Thr
No VIP available CA VA
rs3812718 166909544C>T, 17118962C>T, 25606G>A, 603-91G>A
C > T
Intronic
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  GEFSP2; HBSCI; NAC1; Nav1.1; SMEI
PharmGKB Accession Id: PA301

Details

Cytogenetic Location: chr2 : q24.3 - q24.3
GP mRNA Boundary: chr2 : 166845670 - 167005642
GP Gene Boundary: chr2 : 166842670 - 167015642
Strand: minus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Haplotype Overview

Haplotypes described in [Article:22188362].

Source: PharmGKB

All alleles in the download file are on the positive chromosomal strand. PharmGKB considers the first haplotype listed in each table as the reference haplotype for that set.

No related genes are available

Curated Information ?

Evidence Drug Class
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
antiepileptics

Curated Information ?

Publications related to SCN1A: 20

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
SCN1A variations and response to multiple antiepileptic drugs. The pharmacogenomics journal. 2014. Yip T S C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
A common SCN1A splice-site polymorphism modifies the effect of carbamazepine on cortical excitability--a pharmacogenetic transcranial magnetic stimulation study. Epilepsia. 2014. Menzler Katja, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis. Pharmacogenomics. 2013. Haerian Batoul Sadat, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Gender-specific profiling in SCN1A polymorphisms and time-to-recurrence in patients with stage II/III colorectal cancer treated with adjuvant 5-fluoruracil chemotherapy. The pharmacogenomics journal. 2013. Benhaim L, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Effects of SCN1A and GABA receptor genetic polymorphisms on carbamazepine tolerability and efficacy in Chinese patients with partial seizures: 2-year longitudinal clinical follow-up. CNS neuroscience & therapeutics. 2012. Zhou Bo-Ting, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Comprehensive analysis of the association of SCN1A gene polymorphisms with the retention rate of carbamazepine following monotherapy for new-onset focal seizures in the Chinese Han population. Clinical and experimental pharmacology & physiology. 2012. Zhou Bo-Ting, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Association of polymorphisms in EPHX1, UGT2B7, ABCB1, ABCC2, SCN1A and SCN2A genes with carbamazepine therapy optimization. Pharmacogenomics. 2012. Hung Chin-Chuan, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. Epilepsia. 2011. Manna Ida, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenomic association study on the role of drug metabolizing, drug transporters and drug target gene polymorphisms in drug-resistant epilepsy in a north Indian population. Indian journal of human genetics. 2011. Kumari Ritu, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs. Epilepsia. 2011. Thompson Christopher H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Gender-specific genomic profiling in metastatic colorectal cancer patients treated with 5-fluorouracil and oxaliplatin. Pharmacogenomics. 2011. Gordon Michael A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic profile of patients with epilepsy on first-line antiepileptic drugs and potential directions for personalized treatment. Pharmacogenomics. 2010. Grover Sandeep, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population. British journal of clinical pharmacology. 2009. Lakhan Ram, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures. Neurology. 2009. Schlachter K, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The clinical impact of pharmacogenetics on the treatment of epilepsy. Epilepsia. 2009. Löscher Wolfgang, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression. Pharmacogenetics and genomics. 2008. Kwan Patrick, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. British journal of clinical pharmacology. 2008. Abe Tomohide, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. American journal of human genetics. 2007. Heinzen Erin L, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. Pharmacogenetics and genomics. 2006. Tate Sarah K, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proceedings of the National Academy of Sciences of the United States of America. 2005. Tate Sarah K, et al. PubMed

LinkOuts

UniProtKB:
SCN1A_HUMAN (P35498)
Q8IUJ6_HUMAN (Q8IUJ6)
Ensembl:
ENSG00000144285
GenAtlas:
SCN1A
GeneCard:
SCN1A
MutDB:
SCN1A
ALFRED:
LO022031I
HuGE:
SCN1A
Comparative Toxicogenomics Database:
6323
ModBase:
P35498
HumanCyc Gene:
HS07163
IUPHAR Receptor:
Nav1.1 (578)
HGNC:
10585

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