Effect of Variations on the SCN1A

Variants are common variations in genes that can significantly impact the health and traits of an individual. This section shows all variants that are located on SCN1A, as well as their associated conditions, traits and drugs.

Did you know that gene anomalies are relatively common?

On average, each person has approximately 100 to 400 genes with variations or mutations (with different genes being affected in different individuals). However, in most cases, the matching gene on the other chromosome in the pair is normal, which helps prevent potential negative effects. In the general population, the likelihood of an individual inheriting two copies of the same abnormal gene—and thus developing a genetic disorder—is very low. However, this risk increases significantly for children of parents who are closely related by blood.

doctor_quote

Dr. Wallerstorfer

Conditions caused and influenced by SCN1A

Genetic abnormalities can affect the chance of developing a condition by raising or lowering the risk. They can change how a gene works, leading to faulty or missing proteins. However, even with a higher genetic risk, a condition may not develop because factors like environment and lifestyle also have an impact.

Variants located on SCN1A

The genetic code of a gene is virtually identical between differen people. Only a few individual letters differ from one person to the next.

Did you know genetic variations may affect drugs?

Genetic differences can affect how our body reacts to drugs. Some genes can make a drug work better or worse, and others can change how safe it is or how much of it you need.

doctor_quote

Dr. Wallerstorfer

Pharmacogenetics

Genetic differences can affect how our bodies respond to medications. Some people’s genes can make a drug work better or worse, change how safe it is, or influence how much of the drug they need. These genetic changes can affect how the body processes medicine, like how quickly it is broken down or how it interacts with cells. For example, a genetic difference might cause a person’s body to break down a drug too fast, making it less effective, or too slowly, increasing the risk of side effects. This is why people can have different reactions to the same medication.

rs2298771

Drug
Genotype
Level of evidence
Impacts
Summary

CARBAMAZEPINE

CC

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/C have increased Drug Effect to CARBAMAZEPINE.

more info

CARBAMAZEPINE

CT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/T have increased Drug Effect to CARBAMAZEPINE.

more info

CARBAMAZEPINE

TT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype T/T have increased Drug Effect to CARBAMAZEPINE.

more info

CLOBAZAM

CC

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/C have increased Drug Effect to CLOBAZAM.

more info

CLOBAZAM

CT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/T have increased Drug Effect to CLOBAZAM.

more info

CLOBAZAM

TT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype T/T have decreased Drug Effect to CLOBAZAM.

more info

ETHOSUXIMIDE

CC

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/C have increased Drug Effect to ETHOSUXIMIDE.

more info

ETHOSUXIMIDE

CT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/T have increased Drug Effect to ETHOSUXIMIDE.

more info

ETHOSUXIMIDE

TT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype T/T have decreased Drug Effect to ETHOSUXIMIDE.

more info

LAMOTRIGINE

CC

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/C have increased Drug Effect to LAMOTRIGINE.

more info

LAMOTRIGINE

CT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/T have increased Drug Effect to LAMOTRIGINE.

more info

LAMOTRIGINE

TT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype T/T have decreased Drug Effect to LAMOTRIGINE.

more info

LEVETIRACETAM

CC

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/C have increased Drug Effect to LEVETIRACETAM.

more info

LEVETIRACETAM

CT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/T have increased Drug Effect to LEVETIRACETAM.

more info

LEVETIRACETAM

TT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype T/T have decreased Drug Effect to LEVETIRACETAM.

more info

OXCARBAZEPINE

CC

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/C have increased Drug Effect to OXCARBAZEPINE.

more info

OXCARBAZEPINE

CT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/T have increased Drug Effect to OXCARBAZEPINE.

more info

OXCARBAZEPINE

TT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype T/T have increased Drug Effect to OXCARBAZEPINE.

more info

VALPROIC ACID

CC

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/C have increased Drug Effect to VALPROIC ACID.

more info

VALPROIC ACID

CT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/T have increased Drug Effect to VALPROIC ACID.

more info

VALPROIC ACID

TT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype T/T have decreased Drug Effect to VALPROIC ACID.

more info

Legend:

Increased

Decreased

No known effect

rs2298771

Drug

CARBAMAZEPINE

Genotype
CC
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/C have increased Drug Effect to CARBAMAZEPINE.

More info

Drug

CARBAMAZEPINE

Genotype
CT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/T have increased Drug Effect to CARBAMAZEPINE.

More info

Drug

CARBAMAZEPINE

Genotype
TT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype T/T have increased Drug Effect to CARBAMAZEPINE.

More info

Drug

CLOBAZAM

Genotype
CC
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/C have increased Drug Effect to CLOBAZAM.

More info

Drug

CLOBAZAM

Genotype
CT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/T have increased Drug Effect to CLOBAZAM.

More info

Drug

CLOBAZAM

Genotype
TT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype T/T have decreased Drug Effect to CLOBAZAM.

More info

Drug

ETHOSUXIMIDE

Genotype
CC
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/C have increased Drug Effect to ETHOSUXIMIDE.

More info

Drug

ETHOSUXIMIDE

Genotype
CT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/T have increased Drug Effect to ETHOSUXIMIDE.

More info

Drug

ETHOSUXIMIDE

Genotype
TT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype T/T have decreased Drug Effect to ETHOSUXIMIDE.

More info

Drug

LAMOTRIGINE

Genotype
CC
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/C have increased Drug Effect to LAMOTRIGINE.

More info

Drug

LAMOTRIGINE

Genotype
CT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/T have increased Drug Effect to LAMOTRIGINE.

More info

Drug

LAMOTRIGINE

Genotype
TT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype T/T have decreased Drug Effect to LAMOTRIGINE.

More info

Drug

LEVETIRACETAM

Genotype
CC
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/C have increased Drug Effect to LEVETIRACETAM.

More info

Drug

LEVETIRACETAM

Genotype
CT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/T have increased Drug Effect to LEVETIRACETAM.

More info

Drug

LEVETIRACETAM

Genotype
TT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype T/T have decreased Drug Effect to LEVETIRACETAM.

More info

Drug

OXCARBAZEPINE

Genotype
CC
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/C have increased Drug Effect to OXCARBAZEPINE.

More info

Drug

OXCARBAZEPINE

Genotype
CT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/T have increased Drug Effect to OXCARBAZEPINE.

More info

Drug

OXCARBAZEPINE

Genotype
TT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype T/T have increased Drug Effect to OXCARBAZEPINE.

More info

Drug

VALPROIC ACID

Genotype
CC
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/C have increased Drug Effect to VALPROIC ACID.

More info

Drug

VALPROIC ACID

Genotype
CT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/T have increased Drug Effect to VALPROIC ACID.

More info

Drug

VALPROIC ACID

Genotype
TT
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype T/T have decreased Drug Effect to VALPROIC ACID.

More info

Legend:

Increased

Decreased

No known effect

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