Epilepsy is a condition that can be inherited from genes passed down through the mother or father, with a higher risk being if the mother has epilepsy. Gene mutations can also arise, and about one in three people with epilepsy have a family member with the condition. Targeted testing is used when another family member has a known genetic cause for epilepsy, and most tests require a blood sample, saliva or cheek swab, or skin biopsy.
Epilepsy syndromes may have a genetic basis, but the specific affected gene or genes have not been identified. If a parent has epilepsy, the risk of epilepsy in their daughter(s) is somewhat higher compared to the risk in son(s). If a parent develops epilepsy at a young age, the risk of epilepsy may be genetic. Genetic factors include several genes and other factors involved in causing epilepsy.
Your epilepsy specialist can tell you if your epilepsy may have a genetic cause and may refer you for genetic testing. A thorough analysis of your family history may help determine whether your child’s epilepsy is hereditary and if other family members should be monitored by their physician. Results of genetic testing may help better inform family members of their own risk of epilepsy and their chances of having a child with epilepsy.
Some types of epilepsy run in families and are both inherited and genetic. Not all epilepsies due to genetic causes are inherited. Genetic counsellors will need to consider information about which people in the family have had epilepsy, the seizure type, and age. AncestryDNA® test is an excellent way to find members of your biological family.
Genetic testing, sometimes called genomic testing, finds changes in genes that can cause health problems and is mainly used to diagnose rare and inherited epilepsy. People with epilepsy are more likely to have family members that also have seizures. Common epilepsy risk variants can help explain why some family members develop epilepsy while others do not.
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Heredity and Epilepsy — both sides of the family? | For epilepsy, genetic counsellors will need to consider information about which people in the family have had epilepsy, the seizure type, age of … | epilepsy.com |
Multiplex families with epilepsy: Success of clinical and … | by Z Afawi · 2016 · Cited by 32 — A total of 80% of families were successfully classified, with pathogenic variants identified in 23%. The successful characterization of familial electroclinical … | pmc.ncbi.nlm.nih.gov |
Finding Biological Family | One of the best ways to find members of your biological family is to take an AncestryDNA® test. Even if the person you’re trying to find hasn’t taken the test, … | support.ancestry.com |
📹 Genetics and Epilepsy
Presented by Dr. Michael Sperling, Director of the Jefferson Comprehensive Epilepsy Center at the EFEPA’S 2015 Women’s and …
Is Epilepsy A Result Of Inbreeding?
Familial epilepsy shows a high inbreeding rate, with pedigree analysis indicating an autosomal recessive (AR) inheritance pattern in over one-third of families. Genetic factors contribute to approximately 30% to 40% of epilepsy cases. Individuals with a first-degree relative who has epilepsy are two to four times more likely to develop the condition themselves. While epilepsy can be linked to inherited gene mutations, it can also arise spontaneously (de novo).
Not everyone with genetic predispositions will develop epilepsy, as various factors, including seizure type, influence the likelihood of onset. Genetic epilepsy indicates the presence of genes that heighten seizure risk. Seizures are attributed to known or presumed genetic defects, although many cases show complex interactions between genetic and environmental factors. Genetic abnormalities can result in either a hyperactive or underactive brain, leading to seizures.
Furthermore, incestuous relationships can amplify genetic issues, resulting in conditions that might not occur otherwise. Growing evidence emphasizes the genetic component in epilepsy, with intelligent analysis revealing familial patterns. Most epilepsy types involve multifactorial elements, combining genetic predispositions. Overall, while epilepsy can be acquired from external factors like injury, a substantial number of cases appear to be significantly influenced by genetic elements, reflecting a strong hereditary basis.
Is Absence Epilepsy Genetic?
Studies indicate a 17% risk of typical absence seizures in first-degree relatives of childhood absence epilepsy (CAE) patients, pointing to a genetic component. While twin and family studies suggest genetic causes, a specific gene defect remains unidentified. Most genetic alterations linked to CAE are rare and discovered in few individuals, each contributing to the condition. Typically, absence seizures manifest between ages 4 and 8, and while often genetic, most CAE children show normal results for epilepsy gene tests.
Approximately one-third of families report a history of epilepsy, aligning with complex inheritance patterns. CAE is categorized as idiopathic generalized non-convulsive epilepsy, including related forms such as juvenile absence epilepsy and juvenile myoclonic epilepsy. Genetic models, particularly rats demonstrating spike-and-wave patterns on EEG, validate absence seizures. Notably, variations in treatment responses among CAE patients highlight distinct genetic influences on seizure types.
Although absent a singular genetic cause, CAE appears inherited as an autosomal-dominant trait linked to chromosome 8q. Understanding epilepsy's genetic basis may improve individualized treatment options.
What Ethnicity Is Most Likely To Get Epilepsy?
Research indicates significant racial differences in epilepsy prevalence and experiences. Individuals of Hispanic descent exhibit a higher prevalence of epilepsy compared to non-Hispanics, whereas active epilepsy is more frequently observed in whites than in blacks. Approximately 375, 000 African Americans live with active epilepsy, often characterized by ongoing seizures or the need for medication. Moreover, the lifetime prevalence of epilepsy is notably higher among black individuals (2.
13%) and those with lower educational attainment. African Americans face more frequent seizures, emergency visits, and barriers to healthcare compared to their Caucasian counterparts and often lack adequate support and knowledge about epilepsy management. Statistically, men report a slightly higher incidence of epilepsy than women. Interestingly, the overall majority of epilepsy cases in the U. S. are found in white Americans, who represent 71. 01% of affected individuals.
Despite these common trends, evidence suggests that racial and ethnic minorities, particularly African Americans, have heightened risks of medical emergencies related to epilepsy. Disparities in care, stigma, and differing awareness levels contribute to these inequities, highlighting a need for improved access and understanding within minority communities.
Can You Inherit Epilepsy From A Grandparent?
Experts suggest that epilepsy often arises from a combination of genetic predisposition and environmental factors. Approximately 30 to 40 percent of epilepsy cases are influenced by genetics, with first-degree relatives of those with inherited epilepsy facing a two- to four-fold increased risk. Although genetics play a significant role in several types of epilepsy, not every case is inherited. Individuals with inherited genes that predispose them to epilepsy are identified as having genetic epilepsy, which can be passed from either parent, though the risk is reportedly higher if the mother has the condition.
Moreover, genetic mutations can occur spontaneously, leading to the development of epilepsy without a family history. Studies indicate that out of 474 affected families with no parental epilepsy, many had a second-degree relative (such as a grandparent) with a history of the disorder. Genetics in epilepsy can manifest through inherited genes or de novo mutations, where changes occur post-conception.
While genes significantly influence the likelihood of developing epilepsy, it is not a definitive outcome; many individuals with affected parents do not inherit the condition. Additionally, various gene mutations related to epilepsy have been identified, highlighting both familial and spontaneous origins. Ultimately, the genetic underpinnings of epilepsy remain complex, and the interplay of inheritance and new mutations contributes to its manifestation in affected individuals.
At What Age Genetic Epilepsy Usually Start?
Juvenile myoclonic epilepsy (JME) is a hereditary syndrome diagnosed between the ages of 8 and 25, often beginning with myoclonic seizures shortly after waking, characterized by sudden muscle jerks in both arms. Various types of epilepsy can result from gene mutations, which may be inherited or arise spontaneously. Epilepsy may manifest at any age, with specific syndromes emerging in infancy, childhood, or adulthood. Onset ages vary, with peak groups noted between 6-10 years and 14-17 years.
Approximately 30-40% of epilepsy cases have a genetic basis, and individuals with affected first-degree relatives have a significantly increased risk. Epilepsy can start in early childhood or late adulthood, highlighting its widespread impact across life stages. Syndromes are categorized by seizure types and typical ages of onset. For instance, childhood absence epilepsy generally arises between ages 4-8, while juvenile absence epilepsy typically appears between ages 12-18.
Additionally, conditions like Angelman syndrome often manifest within the first year of life, especially in children with prior brain injuries. Guidelines suggest genetic testing for early-onset epilepsy to better understand these conditions and their hereditary nature.
Are There Genetic Markers For Epilepsy?
Genetic biomarkers play a crucial role in understanding epilepsy, with over 300 related genes identified. Mutations in these genes can result in a varied range of phenotypes, complicating the prognosis. Genetic testing, such as chromosomal microarray (CMA), epilepsy gene panels, and whole-exome sequencing (WES), can help determine the underlying cause of epilepsy and guide optimal medical management, especially for genetic epilepsy disorders. Although there is currently no consensus on a definitive marker, various genetic markers linked to seizure types may serve as prognostic indicators.
Genetic factors can either be inherited or arise de novo, making epilepsy potentially genetic. The field of epilepsy genetics is rapidly evolving, unveiling new disease-associated genes and fostering precision medicine approaches. Genetic tests are particularly vital for diagnosing children with epilepsy, as they can yield valuable insights into treatment and outcomes. Studies emphasize the effectiveness of offering next-generation sequencing as a first-tier test for unexplained epilepsy.
Despite the complexities of genetic involvement, including structural/metabolic elements, recognition of epilepsy-related genes is essential for personalized treatment and screening strategies. This evolving landscape highlights the importance of continued research to improve understanding and management of genetic epilepsy.
Can Epilepsy Be Inherited From Family Members?
Epilepsy can be influenced by genetic factors, sometimes clustering in families due to inherited gene mutations. While many types of epilepsy commonly run in families, genetic mutations can also appear spontaneously in individuals without a family history. Approximately one in three people with epilepsy may have a related family member, indicating a hereditary component. The inheritance patterns vary among different epilepsy types, and affected family members can experience varying symptoms, even with the same genetic mutations.
It’s important to note that not all genetic forms of epilepsy are inherited; some may arise from new mutations at birth. Genetic predisposition, combined with environmental factors, contributes to about 30 to 40 percent of epilepsy cases. First-degree relatives of individuals with inherited epilepsy face a two- to four-fold increased risk. Genetic testing may provide insights for families, often starting with first-degree relatives.
A genetic counselor can help educate families and assess risks, although genetic links in epilepsy remain complex, and many believe that while genetic factors play a role, they are not the sole cause. Understanding these connections is essential for managing and addressing epilepsy's impact on individuals and families.
How Much Does Genetic Testing For Epilepsy Cost?
The most cost-effective genetic test is the epilepsy panel (EP), which has an incremental cost-effectiveness ratio (ICER) of $15, 848 per diagnosis. Whole-exome sequencing (WES) follows with an ICER of $34, 500 per diagnosis. Genetic testing prices range significantly, from under $100 to over $3, 000, often depending on the test type and comprehensiveness. Insurance coverage for genetic tests may require prior genetic counseling, and patients without insurance face substantial costs.
While EP appears most economical among options, both EP and WES show efficacy for diagnosing unexplained epilepsy. Identifying genetic causes can lead to clearer diagnoses and tailored medical management. Cost-effectiveness analyses suggest that for a willingness to pay between $15, 200 and $28, 400 per diagnosis, EP is generally more favorable. Various genetic tests, including gene panels, chromosome microarrays, and WES, utilize DNA extracted from patients.
Genetic tests are available, and there are programs for low-cost or no-charge testing. Each test variant carries its own benefits and limitations, warranting consideration of specific clinical contexts for decision-making. The study's limitations include specific patient demographics and the nature of availability for genetic testing programs.
What Side Of The Family Does Epilepsy Come From?
Epilepsy can be inherited from either parent, but a 2021 study indicates a higher likelihood of transmission from mothers. The risk of a child developing epilepsy increases significantly if both parents have gene mutations associated with the condition. Genetic factors contribute to approximately 30 to 40 percent of epilepsy cases. Having a first-degree relative, such as a parent or sibling, with epilepsy raises an individual's risk by two to four times.
In addition to genetic influences, environmental factors also play a role in the development of epilepsy. A strong family history of epilepsy enhances the likelihood of genetic causes, particularly in children who exhibit early-onset epilepsy with normal MRI and blood test results.
Epilepsy can manifest through various seizure types, with genetic epilepsy presenting differently, including focal epilepsies related to specific syndromes. Genetic mutations, inherited or occurring spontaneously (de novo), can lead to epilepsy, with many childhood forms being passed from parent to child. Epilepsy's genetic basis is highlighted by cases where seizure activity results from known genetic defects.
There are three main hereditary patterns: a low seizure threshold, epilepsy as a symptom of inherited conditions, and claims of spontaneous mutations. Overall, a combination of genetic predisposition and external environmental factors contributes to the complexity of epilepsy inheritance and development.
Does Epilepsy Usually Skip A Generation?
Epilepsy is often misunderstood as primarily an inherited condition, despite evidence suggesting otherwise. Dr. Ganesh Murthy, a neurologist specializing in epilepsy, explains that while genetics can play a role in the development of epilepsy, not everyone with genetic predispositions will experience seizures. Genetic epilepsy refers to instances where inherited or new genetic mutations increase the likelihood of seizures. However, most children of parents with epilepsy do not develop the condition.
Genetic testing and counseling can provide personalized health plans for those at risk. Among the 3. 4 million individuals living with epilepsy, many have normal MRIs and other tests but still develop the disorder due to genetic mutations. Genetic generalized epilepsy, previously termed idiopathic generalized epilepsy, includes disorders that often have genetic links. While some cases of epilepsy can be traced to genetic factors, the majority of epilepsy is not purely genetic and is influenced by environmental factors.
Studies have found that genetic variation could account for a significant portion of epilepsy cases. Although genetic predisposition is implicated in many epilepsy cases, the condition's causes are varied and complex. Ultimately, while genetics is a significant factor in epilepsy, it is generally not the sole cause, contrary to common myths.
Can Epilepsy Be Passed From Father To Child?
Most siblings do not develop epilepsy, and the risk is slightly higher for children whose father has epilepsy. If the mother has epilepsy, the risk remains below 5%. Both parents with epilepsy increase the risk a bit. Epilepsy can be inherited through genes from either parent, but studies indicate a greater risk if the mother is affected. Approximately one in three individuals with epilepsy report family history, but it can be passed down from one or both parents.
A 2021 study emphasized that inheriting epilepsy from a mother poses a greater risk than from a father. Gene mutations can arise spontaneously and may not be present in either parent. Genetics contribute significantly to some types of epilepsy, leading to the designation of genetic epilepsy, but not all cases have a clear inheritance pattern.
Most parents with epilepsy will not have children with the condition, making the chances of inheritance generally low. Some genetic changes linked to epilepsy can occur de novo in a child. Those with affected first-degree relatives may experience a two to four times greater risk but many forms of epilepsy do not have a clear genetic link. Overall, while genetics can play a role in epilepsy development, the condition often does not run in families, and multiple factors contribute to its occurrence.
Can Both Parents Have Epilepsy?
When both parents have gene mutations associated with epilepsy, the likelihood of their child developing epilepsy increases. However, even if both parents have epilepsy, a child can remain seizure-free. The risk of inheriting epilepsy is heightened if parents experience generalized seizures rather than focal seizures. Genetics significantly influence several types of epilepsy, though not all are genetically linked. Children with epileptic parents face a 2-10 times higher risk of developing the condition compared to those without a family history.
If a first-degree relative, like a parent or sibling, has epilepsy, the risk of developing it is two to four times greater. While nearly 30-40% of epilepsy cases are genetic, some individuals with inherited gene changes may not develop the disorder. Seizures are deemed genetically caused if linked to a known genetic defect. It is often unpredictable who will go on to develop epilepsy, as a child may remain seizure-free despite parental epilepsy.
The presence of genetic mutations can be inherited from one or both parents, affecting the chance of seizures. Despite the increased risk, the overall likelihood of epilepsy among other family members remains low.
📹 Genetic Causes of Epilepsy with Dr. Mattison, Dr. Oliveira and Ana Rita
We are delving into the genetic causes of epilepsy in this episode, specifically the role of ATP6V0C in epilepsy. To do so we are …
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