Most people with epilepsy Often have symptoms since childhood This allows patients to know how to take care of themselves and be careful to cope with the disease in a timely manner. But there are other types of epilepsy that only appear after the patient has reached adulthood.
For example, 14 years ago (2008), a 24-year-old Thai woman came to see a doctor at Chulalongkorn University Hospital, the Thai Red Cross Society, with a seizure when she saw flashing lights. Take a retrospective examination of the treatment history It was found that her seizures started when she was 19.
Know “epilepsy”, a brain condition that is often viewed as a “ghost”
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Asst. Prof. Dr. Patra Yithong, Lecturer in Human Genetics Faculty of Science Chulalongkorn University
And later, at age 22, she had tremors and twitching. Doctors diagnosed the condition with adult-onset spastic and tremor epilepsy, or Benign Adult Familial Myoclonic Epilepsy (BAFME).
“At that time, the cause of this type of epilepsy was not yet known exactly what caused it. stress or disorders in the body But when looking back at her family history It has been found that a family member has epileptic seizures and tremors that begin in adulthood as well.” Assistant Professor Dr. Patra Yithong, Lecturer in the Department of Human Genetics Faculty of Science Chulalongkorn University
Tell the beginning of the research on “Finding a new pathogenic gene that causes epilepsy and movement disorders Awarded for good research results From the National Research Council of the year 2021
The results of this research have increased the knowledge of Thailand’s adult epilepsy genes to an international database, published in the journal Brain, a high-level international journal listed in Tier 1 of Medicine at present. Worldwide, more than 100 families have been reported to have been linked to this type of epilepsy.
“As a human geneticist We are interested in finding the genetic causes of genetic diseases found in Thailand from the discovery of new genes. Finding the location of the mutation including the study of the function of genes in order to understand the mechanism of disease We believe that it will help the at-risk people have a better quality of life when they are diagnosed and prepared to deal with potential diseases,” Asst. genetics
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Know the type of epilepsy that occurs in adulthood.
Epilepsy is a disease caused by abnormal electrical waves. Spread out in different areas of the brain from the activity of the whole or any part of the brain to work more than normal for a while.
There are different types of seizures such as unconscious seizures, absent-mindedness, sudden fainting, limb weakness, and convulsive seizures, among others.
for adult-onset spastic and tremor epilepsy Patients will begin to experience tremors and convulsions around the age of 20-30. years, where symptoms and severity vary from person to person. And this disorder is transmitted in families.
“Epileptics can be caused by many reasons. In the past, there was very little knowledge about this disease. Studies from Japan and Italy have only been reported that the cause of BAFME type 1 and 2 is located on chromosomes 8 and 2, respectively, while the causative gene is unknown. for Thailand So far, there have been two reports of BAFME families, type 1 and 4,” Asst. Prof. Dr. Patra explained.
Genes that cause epilepsy in adults
The researchers compared the genetic material of patients and non-diabetic family members using long-read sequencing and molecular genetics techniques. until found that the cause of epilepsy in adults 4 (BAFME4) found in Thailand on chromosome 3. Intron area 1 of the YETS2 gene
Asst. Prof. Dr. Patra explained that the genetic cause of this disease is caused by an increase in TTTCA type “duplicates” in the 1st intron of the YEATS2 gene, which in people at this location will have Unlike humans, the TTTTA replication was approximately 7 times, but the patient had an increase of 819 in the TTTTA replication and 221 TTTCA replications were added to the genotype. It is normal for non-pathogenic to have only TTTTCA replication.
“People with this type of epilepsy There is a genetic material called TTTTA in that region. There was an increased number of repetitions, and our study found that the TTTCA genotype was required. added to the genetic material as well and patients have a 50% chance of transmitting this disorder to their children.” Asst. Prof. Dr. Patra explain
BAFME gene abnormality test
Epilepsy may not be life threatening. But it is an obstacle to living a quality life. In particular, adult-onset epilepsy (BAFME), Asst. Get tested for gene abnormalities. to make a care plan and know how to behave
“The detection of gene abnormalities has direct benefits for patients and their families. Based on the results of this study, physicians were able to provide accurate genetic counseling. Genetic testing can be used to predict for family members who have not yet reached the age of onset of the disease, whether they will show symptoms in the future or not in order to be useful information for family members. and lead to better treatment to relieve symptoms,” said Asst. Prof. Dr. Patra.
For those who are concerned that they or their family members May be an adult-onset epilepsy (BAFME). You can contact the research project via E-mail: [email protected] Asst. Prof. Dr. Patra Yitong, Department of Genetics. human Department of Botany Faculty of Science Chulalongkorn University for further consultation and treatment
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