epilepsy medication guidance and susceptibility gene screening program-九游会ag

research technology and solutions

homeepilepsy medication guidance and susceptibility gene screening program

epilepsy medication guidance and susceptibility genetic screening program

1, guidelines for epilepsy medication

epilepsy is the second most common disease in neurology, and most patients require long-term medication. clinically common antiepileptic drugs, especially aromatic antiepileptic drugs such as carbamazepine, lamotrigine, phenytoin, phenobarbital, etc., may cause skin irritation. according to the frequency of occurrence of hla sensitization genotypes in patients with allergic reactions caused by anti-epileptic drugs, the allergic risk of patients taking carbamazepine or aromatic anti-epileptic drugs is evaluated in stages, which are classified into serious warnings, warnings, and reminders. , low risk, and give specific medication recommendations. australian beacon conducts hla-a and b gene detection before drug administration in patients with epilepsy, and evaluates allergy analysis by combining hla-a and hla-b interactions to alert skin allergic reactions caused by antiepileptic drugs. .

2, whole exon sequencing of patients with epilepsy

now in the diagnosis of epilepsy, some patients can not find the cause; many types of epilepsy genes, complex phenotype, some are difficult to distinguish; in the epilepsy patients, the proportion of new mutations is high, accounting for 40%-70% of the total. for patients who cannot find the cause, the whole exome can be sequenced to find the genetic mutation that causes the disease, help to confirm the diagnosis as soon as possible, and reduce inappropriate treatment and cost. seizure classification can also be assisted by whole exome sequencing based on the relationship between genes, gene function, and epilepsy phenotype. at the same time, it can effectively detect a high proportion of new mutations in patients with epilepsy, and provide reference for prognosis and treatment.

common gene-related epilepsy syndrome

hereditary epilepsy with fever and convulsions
(gefs )

benemic neonatal seizures
(bfns)

benemic familial convulsions
(bfis)

dravet syndrome
(ds)

hereditary epilepsy with fever and convulsions
(gefs )

benemic neonatal seizures
(bfns)

benemic familial convulsions
(bfis)

dravet syndrome
(ds)

hereditary epilepsy with fever and convulsions
(gefs )

benemic neonatal seizures
(bfns)

benemic familial convulsions
(bfis)

dravet syndrome
(ds)

hereditary epilepsy with fever and convulsions
(gefs )

benemic neonatal seizures
(bfns)

benemic familial convulsions
(bfis)

dravet syndrome
(ds)

project

detection method

project meaning

all exon sequencing (single sample)

second generation sequencing

sequencing directly to the coding region reveals genetic variations associated with protein functional variation.

all exon sequencing (family, patient parent three samples)

second generation sequencing

analysis of invisible homozygous mutations, nascent mutations, and complex heterozygous mutations by sequencing to assess the pathogenicity of candidate loci.

shenzhen headquarters

address: building a17, life science industrial park, kwai chung street, dapeng new district, shenzhen

shanghai headquarters

address: building 21, phase 4, shanghai international medical park

epilepsy medication guidance and susceptibility gene screening program-九游会ag

research technology and solutions

1, guidelines for epilepsy medication

2, whole exon sequencing of patients with epilepsy

common gene-related epilepsy syndrome

hereditary epilepsy with fever and convulsions
(gefs )

benemic neonatal seizures
(bfns)

benemic familial convulsions
(bfis)

dravet syndrome
(ds)

hereditary epilepsy with fever and convulsions
(gefs )

benemic neonatal seizures
(bfns)

benemic familial convulsions
(bfis)

dravet syndrome
(ds)

hereditary epilepsy with fever and convulsions
(gefs )

benemic neonatal seizures
(bfns)

benemic familial convulsions
(bfis)

dravet syndrome
(ds)

hereditary epilepsy with fever and convulsions
(gefs )

benemic neonatal seizures
(bfns)

benemic familial convulsions
(bfis)

dravet syndrome
(ds)

project

detection method

project meaning

all exon sequencing (single sample)

second generation sequencing

sequencing directly to the coding region reveals genetic variations associated with protein functional variation.

all exon sequencing (family, patient parent three samples)

second generation sequencing

analysis of invisible homozygous mutations, nascent mutations, and complex heterozygous mutations by sequencing to assess the pathogenicity of candidate loci.

national hotline:400-808-7208

scan on us

epilepsy medication guidance and susceptibility gene screening program-九游会ag

research technology and solutions

1, guidelines for epilepsy medication

2, whole exon sequencing of patients with epilepsy

common gene-related epilepsy syndrome

hereditary epilepsy with fever and convulsions(gefs )

benemic neonatal seizures(bfns)

benemic familial convulsions(bfis)

dravet syndrome(ds)

hereditary epilepsy with fever and convulsions(gefs )

benemic neonatal seizures(bfns)

benemic familial convulsions(bfis)

dravet syndrome(ds)

hereditary epilepsy with fever and convulsions(gefs )

benemic neonatal seizures(bfns)

benemic familial convulsions(bfis)

dravet syndrome(ds)

hereditary epilepsy with fever and convulsions(gefs )

benemic neonatal seizures(bfns)

benemic familial convulsions(bfis)

dravet syndrome(ds)

project detection method project meaning

all exon sequencing (single sample) second generation sequencing sequencing directly to the coding region reveals genetic variations associated with protein functional variation.

all exon sequencing (family, patient parent three samples) second generation sequencing analysis of invisible homozygous mutations, nascent mutations, and complex heterozygous mutations by sequencing to assess the pathogenicity of candidate loci.

national hotline:400-808-7208

scan on us

hereditary epilepsy with fever and convulsions
(gefs )

benemic neonatal seizures
(bfns)

benemic familial convulsions
(bfis)

dravet syndrome
(ds)

hereditary epilepsy with fever and convulsions
(gefs )

benemic neonatal seizures
(bfns)

benemic familial convulsions
(bfis)

dravet syndrome
(ds)

hereditary epilepsy with fever and convulsions
(gefs )

benemic neonatal seizures
(bfns)

benemic familial convulsions
(bfis)

dravet syndrome
(ds)

hereditary epilepsy with fever and convulsions
(gefs )

benemic neonatal seizures
(bfns)

benemic familial convulsions
(bfis)

dravet syndrome
(ds)

project

detection method

project meaning

all exon sequencing (single sample)

second generation sequencing

sequencing directly to the coding region reveals genetic variations associated with protein functional variation.

all exon sequencing (family, patient parent three samples)

second generation sequencing

analysis of invisible homozygous mutations, nascent mutations, and complex heterozygous mutations by sequencing to assess the pathogenicity of candidate loci.