Genetic Causes of Epilepsy

Abad, Rocío Sánchez-Carpintero; Vilaplana, Francesc X Sanmartí; Fernández, José María Serratosa

doi:10.1097/nrl.0b013e31815bb07d

Cited by 17 publications

(12 citation statements)

References 53 publications

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“…More is known though on the genetics of other idiopathic generalized or focal epilepsy. A few inherited epileptic syndromes have been reported and an increasing number of susceptibility candidate genes have been brought forward for focal seizures during recent years [26–28]. Of note, generalized epilepsy with febrile seizures plus (GEFS+) is a recently described familial disorder in which febrile seizures and epilepsy coexist [29].…”

Section: Discussionmentioning

confidence: 99%

Clinical and molecular genetic factors affecting postoperative seizure control of 183 Chinese adult patients with low‐grade gliomas

You

Huang

Yang

et al. 2011

Euro J of Neurology

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Section: Discussionmentioning

confidence: 99%

Clinical and molecular genetic factors affecting postoperative seizure control of 183 Chinese adult patients with low‐grade gliomas

You

Huang

Yang

et al. 2011

Euro J of Neurology

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“…The present study would very likely have detected a major contributing locus, and it is unlikely that a truly causative locus is being excluded as a false negative. In humans, the vast majority of IE remains genetically unexplained and is considered to be polygenic [37-39]. A recent study by Oberbauer et al [40] utilized microsatellites in a genome-wide linkage scan for epilepsy loci in the Belgian shepherd dog and concluded that the disease was highly polygenic, reporting a tentative six QTLs.…”

Section: Discussionmentioning

confidence: 99%

Candidate genes for idiopathic epilepsy in four dog breeds

et al. 2011

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BackgroundIdiopathic epilepsy (IE) is a naturally occurring and significant seizure disorder affecting all dog breeds. Because dog breeds are genetically isolated populations, it is possible that IE is attributable to common founders and is genetically homogenous within breeds. In humans, a number of mutations, the majority of which are genes encoding ion channels, neurotransmitters, or their regulatory subunits, have been discovered to cause rare, specific types of IE. It was hypothesized that there are simple genetic bases for IE in some purebred dog breeds, specifically in Vizslas, English Springer Spaniels (ESS), Greater Swiss Mountain Dogs (GSMD), and Beagles, and that the gene(s) responsible may, in some cases, be the same as those already discovered in humans.ResultsCandidate genes known to be involved in human epilepsy, along with selected additional genes in the same gene families that are involved in murine epilepsy or are expressed in neural tissue, were examined in populations of affected and unaffected dogs. Microsatellite markers in close proximity to each candidate gene were genotyped and subjected to two-point linkage in Vizslas, and association analysis in ESS, GSMD and Beagles.ConclusionsMost of these candidate genes were not significantly associated with IE in these four dog breeds, while a few genes remained inconclusive. Other genes not included in this study may still be causing monogenic IE in these breeds or, like many cases of human IE, the disease in dogs may be likewise polygenic.

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“…60 hygienic measures such as washing hands, taking care not to transmit infections, and maintaining the body's immunity could be effective in people's health against epilepsy. [61][62][63][64][65] Prevention of the known causes of epilepsy most likely includes prevention of birth trauma, central nervous system (CNS) infection in children, cerebrovascular disease in adults, and alcohol and heroin abuse. In most patients with anthrax, proper use of AEDs can prevent recurrence of seizures or premature death.…”

Section: Epilepsy Treatment Methodsmentioning

confidence: 99%

Experimental Therapeutic Strategies in Epilepsies Using Anti-Seizure Medications

Rahim¹,

Azizimalamiri²,

Sayyah³

et al. 2021

JEP

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Epilepsies are among the most common neurological problems. The disease burden in patients with epilepsy is significantly high, and epilepsy has a huge negative impact on patients’ quality of life with epilepsy and their families. Anti-seizure medications are the mainstay treatment in patients with epilepsy, and around 70% of patients will ultimately control with a combination of at least two appropriately selected anti-seizure medications. However, in one-third of patients, seizures are resistant to drugs, and other measures will be needed. The primary goal in using experimental therapeutic medication strategies in patients with epilepsy is to prevent recurrent seizures and reduce the rate of traumatic events that may occur during seizures. So far, various treatments using medications have been offered for patients with epilepsies, which have been classified according to the type of epilepsy, the effectiveness of the medications, and the adverse effects. Medications such as Levetiracetam, valproic acid, and lamotrigine are at the forefront of these patients’ treatment. Epilepsy surgery, neuro-stimulation, and the ketogenic diet are the main measures in patients with medication-resistant epilepsies. In this paper, we will review the therapeutic approach using anti-seizure medications in patients with epilepsy. However, it should be noted that some of these patients still do not respond to existing treatments; therefore, the limited ability of current therapies has fueled research efforts for the development of novel treatment strategies. Thus, it seems that in addition to surgical measures, we should look for more specific agents that have less adverse events and have a greater effect in stopping seizures.

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Genetic Causes of Epilepsy

Cited by 17 publications

References 53 publications

Clinical and molecular genetic factors affecting postoperative seizure control of 183 Chinese adult patients with low‐grade gliomas

Clinical and molecular genetic factors affecting postoperative seizure control of 183 Chinese adult patients with low‐grade gliomas

Candidate genes for idiopathic epilepsy in four dog breeds

Experimental Therapeutic Strategies in Epilepsies Using Anti-Seizure Medications

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