Detail Information of Genetic Polymorphisms
General Information of Drug Transporter (DT) | |||||
---|---|---|---|---|---|
DT ID | DTD0526 Transporter Info | ||||
Gene Name | SCN1A | ||||
Protein Name | Voltage-gated sodium channel alpha Nav1.1 | ||||
Gene ID | |||||
UniProt ID | |||||
Genetic Polymorphisms of DT (GPD) | |||||
Genetic Polymorphism | rs2298771 | ||||
Site of GPD | chr2:166036278 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | C>T | ||||
Minor Allele Frequency | C=0.2115/1059 (Global) | ||||
Allele C | Click to Show/Hide the Full List of Affected Drugs: 33 Drugs in Total | ||||
Lamotrigine | Drug Info | Epilepsy | Correlated with the increased drug response in patients (compare with allele T) | [ 1] | |
Levetiracetam | Drug Info | Epilepsy | Correlated with the increased drug response in patients (compare with allele T) | [ 1] | |
Carbamazepine | Drug Info | Epilepsy | Correlated with the increased drug response in patients (compare with allele T) | [ 1] | |
Valproic acid | Drug Info | Epilepsy | Correlated with the increased drug response in patients (compare with allele T) | [ 1] | |
Oxcarbazepine | Drug Info | Epilepsy | Correlated with the increased drug response in patients (compare with allele T) | [ 1] | |
Antiepileptics | N.A. | Heroin Dependence | Allele C is associated with increased resistance to antiepileptics in people with Epilepsy as compared to allele T. | [ 2] | |
Carbamazepine | N.A. | Discontinuation | Allele C is not associated with drug-resistant phenotype when treated with carbamazepine, phenytoin and valproic acid in people with Epilepsy as compared to allele T. | [ 3] | |
Phenytoin | N.A. | Discontinuation | Allele C is not associated with drug-resistant phenotype when treated with carbamazepine, phenytoin and valproic acid in people with Epilepsy as compared to allele T. | [ 3] | |
Valproic Acid | N.A. | Discontinuation | Allele C is not associated with drug-resistant phenotype when treated with carbamazepine, phenytoin and valproic acid in people with Epilepsy as compared to allele T. | [ 3] | |
Carbamazepine | N.A. | Weight Gain | Allele C is not associated with increased dose of carbamazepine in people with Epilepsy as compared to allele T. | [ 4] | |
Carbamazepine | N.A. | Weight Gain | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Clobazam | N.A. | Weight Gain | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Ethosuximide | N.A. | Weight Gain | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Lamotrigine | N.A. | Weight Gain | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Levetiracetam | N.A. | Weight Gain | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Oxcarbazepine | N.A. | Weight Gain | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Valproic Acid | N.A. | Weight Gain | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Carbamazepine | N.A. | Epilepsy | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Clobazam | N.A. | Epilepsy | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Ethosuximide | N.A. | Epilepsy | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Lamotrigine | N.A. | Epilepsy | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Levetiracetam | N.A. | Epilepsy | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Oxcarbazepine | N.A. | Epilepsy | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Valproic Acid | N.A. | Epilepsy | Allele C is associated with increased response to carbamazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, oxcarbazepine or valproic acid in children with Epilepsy as compared to allele T. | [ 1] | |
Carbamazepine | N.A. | Epilepsy | Allele C is not associated with drug-resistant phenotype when treated with carbamazepine, phenytoin and valproic acid in people with Epilepsy as compared to allele T. | [ 3] | |
Clobazam | N.A. | Epilepsy | Allele C is not associated with drug-resistant phenotype when treated with carbamazepine, phenytoin and valproic acid in people with Epilepsy as compared to allele T. | [ 3] | |
Ethosuximide | N.A. | Epilepsy | Allele C is not associated with drug-resistant phenotype when treated with carbamazepine, phenytoin and valproic acid in people with Epilepsy as compared to allele T. | [ 3] | |
Lamotrigine | N.A. | Epilepsy | Allele C is not associated with drug-resistant phenotype when treated with carbamazepine, phenytoin and valproic acid in people with Epilepsy as compared to allele T. | [ 3] | |
Levetiracetam | N.A. | Epilepsy | Allele C is not associated with drug-resistant phenotype when treated with carbamazepine, phenytoin and valproic acid in people with Epilepsy as compared to allele T. | [ 3] | |
Oxcarbazepine | N.A. | Epilepsy | Allele C is not associated with drug-resistant phenotype when treated with carbamazepine, phenytoin and valproic acid in people with Epilepsy as compared to allele T. | [ 3] | |
Valproic Acid | N.A. | Epilepsy | Allele C is not associated with drug-resistant phenotype when treated with carbamazepine, phenytoin and valproic acid in people with Epilepsy as compared to allele T. | [ 3] | |
Clobazam | N.A. | Epilepsy | Correlated with the increased drug response in patients (compare with allele T) | [ 1] | |
Ethosuximide | N.A. | Epilepsy | Correlated with the increased drug response in patients (compare with allele T) | [ 1] | |
Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 15 Drugs in Total | ||||
Valproic Acid | N.A. | Weight Gain | Genotype TT is associated with decreased likelihood of Weight gain when treated with valproic acid in children with Epilepsy as compared to genotypes CC + CT. | [ 5] | |
Valproic Acid | N.A. | Weight Gain | Genotype TT is associated with increased clinical benefit to valproic acid in children with Epilepsy as compared to genotypes CC + CT. | [ 6] | |
Carbamazepine | N.A. | Weight Gain | Genotype TT is associated with increased response to carbamazepine in people with Epilepsy as compared to genotypes CC + CT. | [ 7] | |
Carbamazepine | N.A. | Weight Gain | Genotype TT is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes CC + CT. | [ 8] | |
Carbamazepine | N.A. | Epilepsy | Genotype TT is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes CC + CT. | [ 8] | |
Oxcarbazepine | N.A. | Epilepsy | Genotype TT is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes CC + CT. | [ 8] | |
Carbamazepine | N.A. | Epilepsy | Genotype TT is associated with increased response to carbamazepine in people with Epilepsy as compared to genotypes CC + CT. | [ 7] | |
Oxcarbazepine | N.A. | Epilepsy | Genotype TT is associated with increased response to carbamazepine in people with Epilepsy as compared to genotypes CC + CT. | [ 7] | |
Carbamazepine | N.A. | Epilepsy | Patients with epilepsy and the TT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have a worse response as compared to patients with the CT or CC genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Clobazam | N.A. | Epilepsy | Patients with epilepsy and the TT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have a worse response as compared to patients with the CT or CC genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Ethosuximide | N.A. | Epilepsy | Patients with epilepsy and the TT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have a worse response as compared to patients with the CT or CC genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Lamotrigine | N.A. | Epilepsy | Patients with epilepsy and the TT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have a worse response as compared to patients with the CT or CC genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Levetiracetam | N.A. | Epilepsy | Patients with epilepsy and the TT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have a worse response as compared to patients with the CT or CC genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Oxcarbazepine | N.A. | Epilepsy | Patients with epilepsy and the TT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have a worse response as compared to patients with the CT or CC genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Valproic Acid | N.A. | Epilepsy | Patients with epilepsy and the TT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have a worse response as compared to patients with the CT or CC genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Allele T | Click to Show/Hide the Full List of Affected Drugs: 9 Drugs in Total | ||||
Carbamazepine | N.A. | Weight Gain | Allele T is not associated with response to carbamazepine or valproic acid in people with Epilepsy as compared to allele C. | [ 9] | |
Valproic Acid | N.A. | Weight Gain | Allele T is not associated with response to carbamazepine or valproic acid in people with Epilepsy as compared to allele C. | [ 9] | |
Carbamazepine | N.A. | Epilepsy | Allele T is not associated with response to carbamazepine or valproic acid in people with Epilepsy as compared to allele C. | [ 9] | |
Clobazam | N.A. | Epilepsy | Allele T is not associated with response to carbamazepine or valproic acid in people with Epilepsy as compared to allele C. | [ 9] | |
Ethosuximide | N.A. | Epilepsy | Allele T is not associated with response to carbamazepine or valproic acid in people with Epilepsy as compared to allele C. | [ 9] | |
Lamotrigine | N.A. | Epilepsy | Allele T is not associated with response to carbamazepine or valproic acid in people with Epilepsy as compared to allele C. | [ 9] | |
Levetiracetam | N.A. | Epilepsy | Allele T is not associated with response to carbamazepine or valproic acid in people with Epilepsy as compared to allele C. | [ 9] | |
Oxcarbazepine | N.A. | Epilepsy | Allele T is not associated with response to carbamazepine or valproic acid in people with Epilepsy as compared to allele C. | [ 9] | |
Valproic Acid | N.A. | Epilepsy | Allele T is not associated with response to carbamazepine or valproic acid in people with Epilepsy as compared to allele C. | [ 9] | |
Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 19 Drugs in Total | ||||
Carbamazepine | N.A. | Weight Gain | Genotype CC is not associated with resistance to carbamazepine or oxcarbazepine in people with Epilepsy as compared to genotype TT. | [ 10] | |
Oxcarbazepine | N.A. | Weight Gain | Genotype CC is not associated with resistance to carbamazepine or oxcarbazepine in people with Epilepsy as compared to genotype TT. | [ 10] | |
Carbamazepine | N.A. | Weight Gain | Genotype CC is not associated with metabolism of carbamazepine in people with Epilepsy as compared to genotypes CT + TT. | [ 8] | |
Carbamazepine | N.A. | Epilepsy | Genotype CC is not associated with metabolism of carbamazepine in people with Epilepsy as compared to genotypes CT + TT. | [ 8] | |
Oxcarbazepine | N.A. | Epilepsy | Genotype CC is not associated with metabolism of carbamazepine in people with Epilepsy as compared to genotypes CT + TT. | [ 8] | |
Carbamazepine | N.A. | Epilepsy | Genotype CC is not associated with resistance to carbamazepine or oxcarbazepine in people with Epilepsy as compared to genotype TT. | [ 10] | |
Oxcarbazepine | N.A. | Epilepsy | Genotype CC is not associated with resistance to carbamazepine or oxcarbazepine in people with Epilepsy as compared to genotype TT. | [ 10] | |
Clobazam | N.A. | Epilepsy | Genotype CC is not associated with resistance to carbamazepine or oxcarbazepine in people with Epilepsy as compared to genotype TT. | [ 10] | |
Ethosuximide | N.A. | Epilepsy | Genotype CC is not associated with resistance to carbamazepine or oxcarbazepine in people with Epilepsy as compared to genotype TT. | [ 10] | |
Lamotrigine | N.A. | Epilepsy | Genotype CC is not associated with resistance to carbamazepine or oxcarbazepine in people with Epilepsy as compared to genotype TT. | [ 10] | |
Levetiracetam | N.A. | Epilepsy | Genotype CC is not associated with resistance to carbamazepine or oxcarbazepine in people with Epilepsy as compared to genotype TT. | [ 10] | |
Valproic Acid | N.A. | Epilepsy | Genotype CC is not associated with resistance to carbamazepine or oxcarbazepine in people with Epilepsy as compared to genotype TT. | [ 10] | |
Carbamazepine | N.A. | Epilepsy | Patients with epilepsy and the CC genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the CT or TT genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence the response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Clobazam | N.A. | Epilepsy | Patients with epilepsy and the CC genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the CT or TT genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence the response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Ethosuximide | N.A. | Epilepsy | Patients with epilepsy and the CC genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the CT or TT genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence the response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Lamotrigine | N.A. | Epilepsy | Patients with epilepsy and the CC genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the CT or TT genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence the response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Levetiracetam | N.A. | Epilepsy | Patients with epilepsy and the CC genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the CT or TT genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence the response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Oxcarbazepine | N.A. | Epilepsy | Patients with epilepsy and the CC genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the CT or TT genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence the response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Valproic Acid | N.A. | Epilepsy | Patients with epilepsy and the CC genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the CT or TT genotypes, although this is contradicted in four studies. Other clinical and genetic factors may also influence the response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Genotypes CC + CT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Weight Gain | Genotypes CC + CT is associated with increased resistance to antiepileptics in children with Epilepsy as compared to genotype TT. | [ 11] | |
Genotype CT | Click to Show/Hide the Full List of Affected Drugs: 9 Drugs in Total | ||||
Carbamazepine | N.A. | Epilepsy | Patients with the CT genotype and epilepsy who are treated with carbamazepine may have a decreased likelihood of a good response as compared to patients with the TT genotype, although most studies have found no association with response. Other genetic and clinical factors may also influence a patient's response to carbamazepine treatment. | [ 8] | |
Oxcarbazepine | N.A. | Epilepsy | Patients with the CT genotype and epilepsy who are treated with carbamazepine may have a decreased likelihood of a good response as compared to patients with the TT genotype, although most studies have found no association with response. Other genetic and clinical factors may also influence a patient's response to carbamazepine treatment. | [ 8] | |
Carbamazepine | N.A. | Epilepsy | Patients with epilepsy and the CT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the TT genotypes and a worse response as compared to patients with the CC genotype, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Clobazam | N.A. | Epilepsy | Patients with epilepsy and the CT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the TT genotypes and a worse response as compared to patients with the CC genotype, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Ethosuximide | N.A. | Epilepsy | Patients with epilepsy and the CT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the TT genotypes and a worse response as compared to patients with the CC genotype, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Lamotrigine | N.A. | Epilepsy | Patients with epilepsy and the CT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the TT genotypes and a worse response as compared to patients with the CC genotype, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Levetiracetam | N.A. | Epilepsy | Patients with epilepsy and the CT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the TT genotypes and a worse response as compared to patients with the CC genotype, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Oxcarbazepine | N.A. | Epilepsy | Patients with epilepsy and the CT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the TT genotypes and a worse response as compared to patients with the CC genotype, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Valproic Acid | N.A. | Epilepsy | Patients with epilepsy and the CT genotype who are treated with mono or combination anti-epileptic therapy (carbamazepine, oxcarbazepine, clobazam, ethosuximide, lamotrigine, levetiracetam, or valproic acid), may have an improved response as compared to patients with the TT genotypes and a worse response as compared to patients with the CC genotype, although this is contradicted in four studies. Other clinical and genetic factors may also influence response of epileptic patients to anti-epileptic drugs. | [ 1] | |
Genetic Polymorphism | rs10167228 | ||||
Site of GPD | chr2:166042592 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | T>A / T>C / T>G | ||||
Minor Allele Frequency | T=0.2120/419 (Global) | ||||
Allele T | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Heroin Dependence | Allele T is associated with increased resistance to antiepileptics in people with Epilepsy as compared to allele C. | [ 2] | |
Genotype AA | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Valproic Acid | N.A. | Weight Gain | Genotype AA is associated with decreased likelihood of Weight gain when treated with valproic acid in children with Epilepsy as compared to genotypes AT + TT. | [ 5] | |
Genetic Polymorphism | rs3812718 | ||||
Site of GPD | chr2:166053034 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | C>T | ||||
Minor Allele Frequency | C=0.5140/1017 (Global) | ||||
Genotype TT | Click to Show/Hide the Full List of Affected Drugs: 11 Drugs in Total | ||||
Carbamazepine | N.A. | Discontinuation | Genotype TT is associated with increased risk of discontinuation when treated with carbamazepine in people with Epilepsy as compared to genotypes CC + CT. | [ 12] | |
Carbamazepine | N.A. | Weight Gain | Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC. | [ 12] | |
Carbamazepine | N.A. | Weight Gain | Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotypes CC + CT. | [ 4] | |
Carbamazepine | N.A. | Weight Gain | Genotype TT is associated with resistance to carbamazepine or oxcarbazepine in people with Epilepsy as compared to genotype CC. | [ 10] | |
Oxcarbazepine | N.A. | Weight Gain | Genotype TT is associated with resistance to carbamazepine or oxcarbazepine in people with Epilepsy as compared to genotype CC. | [ 10] | |
Fluorouracil | N.A. | Weight Gain | Genotype TT is associated with decreased time to tumor recurrence (TTR) when treated with fluorouracil in Colorectal Neoplasms as compared to genotypes CC + CT. | [ 15] | |
Carbamazepine | N.A. | Weight Gain | Genotype TT is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to genotypes CC + CT. | [ 8] | |
Carbamazepine | N.A. | Epilepsy | Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotypes CC + CT. | [ 8] | |
Carbamazepine | N.A. | Epilepsy | Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC. | [ 12] | |
Phenytoin | N.A. | Epilepsy | Patients with the TT genotype who are treated with phenytoin may require the highest dose as compared to patients with the CT or CC genotype. Other genetic and clinical factors may also influence dose of phenytoin. | [ 17] | |
Carbamazepine | N.A. | Epilepsy | Genotype TT is associated with resistance to carbamazepine or oxcarbazepine in people with Epilepsy as compared to genotype CC. | [ 10] | |
Allele C | Click to Show/Hide the Full List of Affected Drugs: 4 Drugs in Total | ||||
Lamotrigine | N.A. | Discontinuation | Allele C is associated with increased tonic block of Na(V) 1.1 channels when treated with lamotrigine as compared to allele T. | [ 15] | |
Carbamazepine | N.A. | Weight Gain | Allele C is not associated with response to carbamazepine or oxcarbazepine in people with Epilepsy as compared to allele T. | [ 16] | |
Oxcarbazepine | N.A. | Weight Gain | Allele C is not associated with response to carbamazepine or oxcarbazepine in people with Epilepsy as compared to allele T. | [ 16] | |
Carbamazepine | N.A. | Epilepsy | Allele C is not associated with response to carbamazepine or oxcarbazepine in people with Epilepsy as compared to allele T. | [ 16] | |
Allele T | Click to Show/Hide the Full List of Affected Drugs: 8 Drugs in Total | ||||
Valproic Acid | N.A. | Weight Gain | Allele T is associated with increased clinical benefit to valproic acid in children with Epilepsy as compared to allele C. | [ 5] | |
Oxcarbazepine | N.A. | Weight Gain | Allele T is associated with increased dose of oxcarbazepine in people with Epilepsy as compared to allele C. | [ 18] | |
Carbamazepine | N.A. | Weight Gain | Allele T is not associated with response to carbamazepine or valproic acid in people with Epilepsy as compared to allele C. | [ 9] | |
Valproic Acid | N.A. | Weight Gain | Allele T is not associated with response to carbamazepine or valproic acid in people with Epilepsy as compared to allele C. | [ 9] | |
Phenytoin | N.A. | Weight Gain | Allele T is associated with increased dose of phenytoin in people with Epilepsy as compared to allele C. | [ 20] | |
Phenytoin | N.A. | Weight Gain | Allele T is not associated with resistance to phenytoin in people with Epilepsy as compared to allele C. | [ 21] | |
Phenytoin | N.A. | Epilepsy | Allele T is associated with increased dose of phenytoin in people with Epilepsy as compared to allele C. | [ 20] | |
Carbamazepine | N.A. | Epilepsy | Allele T is not associated with response to carbamazepine or valproic acid in people with Epilepsy as compared to allele C. | [ 9] | |
Genotype CT | Click to Show/Hide the Full List of Affected Drugs: 5 Drugs in Total | ||||
Carbamazepine | N.A. | Weight Gain | Genotype CT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC. | [ 4] | |
Carbamazepine | N.A. | Epilepsy | Genotype CT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC. | [ 4] | |
Carbamazepine | N.A. | Epilepsy | Patients with the rs3812718 CT genotype who are treated with carbamazepine may require a higher dose as compared to patients with the CC genotype but a lower dose as compared to patients with the TT genotype. Other genetic and clinical factors may also influence dose of carbamazepine. | [ 8] | |
Phenytoin | N.A. | Epilepsy | Patients with the CT genotype who are treated with phenytoin may require a higher dose as compared to patients with the CC genotype. Other genetic and clinical factors may also influence dose of phenytoin. | [ 14] | |
Carbamazepine | N.A. | Epilepsy | Patients with the CT genotype and epilepsy who are treated with carbamazepine may be more likely to respond to treatment as compared to patients with the TT genotype. Other genetic and clinical factors may also influence a patient's response to carbamazepine. | [ 12] | |
Genotype CC | Click to Show/Hide the Full List of Affected Drugs: 6 Drugs in Total | ||||
Fluorouracil | N.A. | Weight Gain | Genotype CC is associated with decreased time to tumor recurrence (TTR) when treated with fluorouracil in Colorectal Neoplasms as compared to genotypes CT + TT. | [ 13] | |
Carbamazepine | N.A. | Weight Gain | Genotype CC is associated with increased cortical silent period duration due to carbamazepine in healthy individuals as compared to genotype TT. | [ 21] | |
Carbamazepine | N.A. | Weight Gain | Genotype CC is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes CT + TT. | [ 8] | |
Carbamazepine | N.A. | Epilepsy | Patients with the rs3812718 CC genotype who are treated with carbamazepine may require a lower dose as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence dose of carbamazepine. | [ 8] | |
Phenytoin | N.A. | Epilepsy | Patients with the CC genotype who are treated with phenytoin may require a lower dose as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence dose of phenytoin. | [ 14] | |
Carbamazepine | N.A. | Epilepsy | Patients with the CC genotype and epilepsy who are treated with carbamazepine may be more likely to respond to treatment as compared to patients with the TT genotype. Other genetic and clinical factors may also influence a patient's response to carbamazepine. | [ 12] | |
Genotypes CT + TT | Click to Show/Hide the Full List of Affected Drugs: 4 Drugs in Total | ||||
Phenytoin | N.A. | Weight Gain | Genotypes CT + TT are associated with increased dose of phenytoin in people with Epilepsy as compared to genotype CC. | [ 14] | |
Carbamazepine | N.A. | Weight Gain | Genotypes CT + TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC. | [ 22] | |
Carbamazepine | N.A. | Epilepsy | Genotypes CT + TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC. | [ 22] | |
Phenytoin | N.A. | Epilepsy | Genotypes CT + TT are associated with increased dose of phenytoin in people with Epilepsy as compared to genotype CC. | [ 14] | |
Genotypes CC + CT | Click to Show/Hide the Full List of Affected Drugs: 2 Drugs in Total | ||||
Carbamazepine | N.A. | Weight Gain | Genotypes CC + CT are associated with increased response to carbamazepine in people with Epilepsy as compared to genotype TT. | [ 7] | |
Carbamazepine | N.A. | Epilepsy | Genotypes CC + CT are associated with increased response to carbamazepine in people with Epilepsy as compared to genotype TT. | [ 7] | |
Genetic Polymorphism | rs121917953 | ||||
Site of GPD | chr2:166054677 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | T>A | ||||
Genotypes AA + AT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Weight Gain | Genotypes AA + AT is associated with increased resistance to antiepileptics in people with Epilepsy as compared to genotype TT. | [ 22] | |
Genetic Polymorphism | rs121918623 | ||||
Site of GPD | chr2:166038098 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | G>A | ||||
Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Weight Gain | Allele A is not associated with increased resistance to antiepileptics in people with Epilepsy as compared to allele G. | [ 22] | |
Genetic Polymorphism | rs10188577 | ||||
Site of GPD | chr2:166059387 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | T>C | ||||
Minor Allele Frequency | T=0.7910/1565 (Global) | ||||
Genotype CT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Antiepileptics | N.A. | Weight Gain | Genotype CT is associated with increased resistance to antiepileptics in people with Epilepsy. | [ 23] | |
References | |||||
1 | The association of SCN1A p.Thr1067Ala polymorphism with epilepsy risk and the response to antiepileptic drugs in Slovenian children and adolescents with epilepsy. Seizure. 2017 Oct;51:9-13. | ||||
2 | The association of SCN1A polymorphisms with epilepsy and drug resistance: a systematic review and meta-analysis. Neurogenetics. 2025 Apr 03;26(1):42. | ||||
3 | 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 J Hum Genet. 2011 May;17 Suppl 1:S32-40. | ||||
4 | Association of polymorphisms in EPHX1, UGT2B7, ABCB1, ABCC2, SCN1A and SCN2A genes with carbamazepine therapy optimization. Pharmacogenomics. 2012 Jan;13(2):159-69. | ||||
5 | SCN1A Polymorphisms and Haplotypes Are Associated With Valproic Acid Treatment Outcomes in Chinese Children With Epilepsy. Pediatr Neurol. 2023 Sep;146:55-64. | ||||
6 | Effect of SCN1Aand SCN2A gene polymorphisms on the efficacy of valproic acid treatment in Chinese children with epilepsy. PLoS One. 2024;19(6):e0304869. | ||||
7 | 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 Neurosci Ther. 2012 Jul;18(7):566-72. | ||||
8 | Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients. PLoS One. 2015 Nov 10;10(11):e0142408. | ||||
9 | SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis. Pharmacogenomics. 2013 Jul;14(10):1153-66. | ||||
10 | Association of SCN1A, SCN2A and ABCC2 gene polymorphisms with the response to antiepileptic drugs in Chinese Han patients with epilepsy. Pharmacogenomics. 2014 Jul;15(10):1323-36. | ||||
11 | Association between Genetic Polymorphism of. Medicina (Kaunas). 2024 Apr 16;60(4). | ||||
12 | 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. Clin Exp Pharmacol Physiol. 2012 Apr;39(4):379-84. | ||||
13 | Gender-specific profiling in SCN1A polymorphisms and time-to-recurrence in patients with stage II/III colorectal cancer treated with adjuvant 5-fluoruracil chemotherapy. Pharmacogenomics J. 2014 Apr;14(2):135-41. | ||||
14 | A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. Pharmacogenet Genomics. 2006 Oct;16(10):721-6. | ||||
15 | SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs. Epilepsia. 2011 May;52(5):1000-9. | ||||
16 | A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. Epilepsia. 2011 May;52(5):e40-4. | ||||
17 | SCN1A, ABCC2 and UGT2B7 gene polymorphisms in association with individualized oxcarbazepine therapy. Pharmacogenomics. 2015;16(4):347-60. | ||||
18 | Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proc Natl Acad Sci U S A. 2005 Apr 12;102(15):5507-12. | ||||
19 | Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy. Front Pharmacol. 2020;11:555. | ||||
20 | A common SCN1A splice-site polymorphism modifies the effect of carbamazepine on cortical excitability--a pharmacogenetic transcranial magnetic stimulation study. Epilepsia. 2014 Feb;55(2):362-9. | ||||
21 | Association between PK/PD-involved gene polymorphisms and carbamazepine-individualized therapy. Pharmacogenomics. 2015;16(13):1499-512. | ||||
22 | Sodium channel mutation. World J Psychiatry. 2025 Feb 19;15(2):100738. | ||||
23 | SCN1A variations and response to multiple antiepileptic drugs. Pharmacogenomics J. 2014 Aug;14(4):385-9. |
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