Epilepsy in twins

Vadlamudi, Lata; Andermann, Eva; Lombroso, Cesare; Schachter, Steven C.; Milne, Roger L.; Hopper, John L.; Andermann, Frédérick; Berkovic, Samuel F.

doi:10.1212/01.wnl.0000118201.89498.48

Cited by 49 publications

(10 citation statements)

References 17 publications

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“…24–27 Most people with epilepsy, however, have no affected relatives. For example, in a population-based study conducted by our research group, only around 15% of probands with incident epilepsy had one or more first-degree relative with epilepsy.…”

Section: Potential Benefits and Risksmentioning

confidence: 99%

Genetic testing in the epilepsies—developments and dilemmas

et al. 2014

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In the past two decades, the number of genes recognized to have a role in the epilepsies has dramatically increased. The availability of testing for epilepsy-related genes is potentially helpful for clarification of the diagnosis and prognosis, selection of optimal treatments, and provision of information for family planning. For some patients, identification of a specific genetic cause of their epilepsy has important personal value, even in the absence of clear clinical utility. The availability of genetic testing also raises new issues that have only begun to be considered. These issues include the growing importance of educating physicians about when and how to test patients, the need to ensure that affected individuals and their families can make informed choices about testing and receive support after receiving the results, and the question of what the positive and negative consequences of genetic testing will be for affected individuals, their family members, and society.

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Section: Potential Benefits and Risksmentioning

confidence: 99%

Genetic testing in the epilepsies—developments and dilemmas

et al. 2014

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“…Monogenic disorders that cause epilepsy are relatively rare [57]. In contrast, idiopathic generalized epilepsy (IGE) is a polygenic disorder [34, 38, 69, 76, 84]. The first evidence that IGE was a polygenic disorder came from Dr. Lennox’s study of epilepsy in twins [84].…”

Section: Cacna1h Is An Epilepsy Susceptibility Genementioning

confidence: 99%

“…In contrast, idiopathic generalized epilepsy (IGE) is a polygenic disorder [34, 38, 69, 76, 84]. The first evidence that IGE was a polygenic disorder came from Dr. Lennox’s study of epilepsy in twins [84]. He found that even in monozygotic twins there was only a 75% concordance for absence epilepsy, with a 0% concordance in dizygotic twins.…”

Section: Cacna1h Is An Epilepsy Susceptibility Genementioning

confidence: 99%

Role of voltage-gated calcium channels in epilepsy

Zamponi

Lory

Perez‐Reyes

2009

Pflugers Arch - Eur J Physiol

156

107

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It is well established that idiopathic generalized epilepsies (IGEs) show a polygenic origin and may arise from dysfunction of various types of voltage- and ligand-gated ion channels. There is an increasing body of literature implicating both high and low voltage-activated (HVA and LVA) calcium channels and their ancillary subunits in IGEs. Cav2.1 (P/Q-type) calcium channels control synaptic transmission at presynaptic nerve terminals, and mutations in the gene encoding the Cav2.1 α1 subunit (CACNA1A) have been linked to absence seizures in both humans and rodents. Similarly, mutations and loss of function mutations in ancillary HVA calcium channel subunits known to coassemble with Cav2.1 result in IGE phenotypes in mice. It is important to note that in all these mouse models with mutations in HVA subunits there is a compensatory increase in thalamic LVA currents, which likely leads to the seizure phenotype. In fact, gain of function mutations have been identified in Cav3.2 (an LVA or T-type calcium channel encoded by the CACNA1H gene) in patients with congenital forms of IGEs, consistent with increased excitability of neurons as a result of enhanced T-type channel function. Here we provide a broad overview of the roles of voltage-gated calcium channels, their mutations, and how they might contribute to the river that terminates in epilepsy.

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“…However, the vast majority of the genetic epilepsies are multifactorial, with an underlying genetic contribution that is polygenic, where few or usually none of the susceptibility genes have been identified. This multifactorial concept dates back to the early works of William Lennox [7] and was well established in the modern era with additional twin data [8]. It is important to note that epilepsy with complex genetics and complex epilepsy are distinct concepts.…”

Section: Overview Of Clinical Types and The Genetics Of Epilepsymentioning

confidence: 99%

Genetically complex epilepsies, copy number variants and syndrome constellations

Mefford

Mulley

2010

Genome Med

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Epilepsy is one of the most common neurological disorders, with a prevalence of 1% and lifetime incidence of 3%. There are numerous epilepsy syndromes, most of which are considered to be genetic epilepsies. Despite the discovery of more than 20 genes for epilepsy to date, much of the genetic contribution to epilepsy is not yet known. Copy number variants have been established as an important source of mutation in other complex brain disorders, including intellectual disability, autism and schizophrenia. Recent advances in technology now facilitate genome-wide searches for copy number variants and are beginning to be applied to epilepsy. Here, we discuss what is currently known about the contribution of copy number variants to epilepsy, and how that knowledge is redefining classification of clinical and genetic syndromes.

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Epilepsy in twins

Cited by 49 publications

References 17 publications

Genetic testing in the epilepsies—developments and dilemmas

Genetic testing in the epilepsies—developments and dilemmas

Role of voltage-gated calcium channels in epilepsy

Genetically complex epilepsies, copy number variants and syndrome constellations

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