Human epilepsies: interaction of genetic and acquired factors

@article{Berkovic2006HumanEI,
  title={Human epilepsies: interaction of genetic and acquired factors},
  author={Samuel F. Berkovic and John Charles Mulley and Ingrid E. Scheffer and Steven Petrou},
  journal={Trends in Neurosciences},
  year={2006},
  volume={29},
  pages={391-397}
}
Epilepsies, once regarded as due to demoniacal possession, can have both genetic and acquired causes, with interaction of these factors in many cases. To date, nearly all the genes discovered to be involved in human epilepsies encode subunits of ion channels, both voltage-gated and ligand-gated. Established acquired causes include serious brain trauma, stroke, tumours and infective lesions. Thus, in terms of exploring the neurobiology of "nature and nurture" in disease, the epilepsies are an… Expand
Mechanisms of human inherited epilepsies
TLDR
This review first introduces the epilepsy syndromes linked to mutations in the various genes and collates the genetic and functional analysis of these genes, which should allow us to understand the underlying pathology of epilepsy ultimately providing novel therapeutic strategies to complete the clinic-bench-clinic cycle. Expand
Genetic Causes of Epilepsy
TLDR
The advances made in genetic knowledge of epilepsy have led to the description of new epilepsy syndromes and to a better characterization of known ones, however, the genes responsible for the most common forms of idiopathic epilepsy remain mostly unknown. Expand
Genetic causes of epilepsy.
TLDR
The advances made in genetic knowledge of epilepsy have led to the description of new epilepsy syndromes and to a better characterization of known ones, however, the genes responsible for the most common forms of idiopathic epilepsy remain mostly unknown. Expand
Neuroimaging and neurogenetics of epilepsy in humans
TLDR
How neuroimaging studies in humans may help to bridge the gap between genotype and phenotype is illustrated and examples of familial focal, idiopathic generalized epilepsies, and severe myoclonic epilepsy of infancy are presented. Expand
The impact of genetic and experimental studies on classification and therapy of the epilepsies
TLDR
The influence of genetic studies on epilepsy taxonomy is now a matter of discussion: their impact on the international classification of the epilepsies will hopefully be defined soon. Expand
Navigating the channels and beyond: unravelling the genetics of the epilepsies
TLDR
Clinical genetic data is synthesised, the strengths and weaknesses of different approaches are discussed, and molecular findings about the epilepsies are integrated to inform clinicians about the biology of the epilepsy. Expand
Epigenetics in epilepsy
TLDR
The many faces of the epigenetic machinery are discussed, which provides powerful tools and mechanisms to propagate epileptogenicity and likely also contribute to the epileptogenic memory in chronic and difficult-to-treat epilepsies. Expand
What’s new in: “Genetics in childhood epilepsy”
  • L. Lagae
  • Medicine
  • European Journal of Pediatrics
  • 2008
TLDR
Genetic studies are nowadays becoming a necessary diagnostic step in the evaluation of idiopathic childhood epilepsies, not only in familial cases, but also in sporadic cases. Expand
The hidden genetics of epilepsy—a clinically important new paradigm
TLDR
Improved understanding of the genetics of the epilepsies is confirmed by the positive outcomes, in terms of treatment selection and counselling, of receiving a genetic diagnosis, and a new paradigm for use in the clinic is suggested. Expand
Unraveling the genetics of common epilepsies: Approaches, platforms, and caveats
TLDR
Current technologies and analytical frameworks that might expedite the discovery of genetic risk markers of the common epilepsy syndromes by leveraging advances in microarray-based, high-throughput, genotyping technology, and complementary interdisciplinary expertise of study teams are discussed. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 52 REFERENCES
Genetics of the epilepsies.
TLDR
The major challenge before us in understanding the genetics of the epilepsies is to identify genes for common forms of epilepsy following complex inheritance and once such genes are discovered, the gene-gene-environmental interactions producing specific epilepsy syndromes can be explored. Expand
The biology of epilepsy genes.
  • J. Noebels
  • Biology, Medicine
  • Annual review of neuroscience
  • 2003
TLDR
This review selects exemplary members of several gene families to illustrate principal categories of the disease and trace the biological pathways to epileptogenesis in the developing brain. Expand
Molecular and cellular mechanisms of pharmacoresistance in epilepsy.
TLDR
An emerging understanding of the molecular underpinnings of both transporter- and target-mediated mechanisms of pharmacoresistance in human and experimental epilepsy is likely to provide important impetus for the development of new pharmacological treatment strategies. Expand
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
TLDR
Discovery of LGI1 as a cause of ADPEAF suggests new avenues for research on pathogenic mechanisms of idiopathic epilepsies and shows that the expression pattern of mouse Lgi1 is predominantly neuronal and is consistent with the anatomic regions involved in temporal lobe epilepsy. Expand
Susceptibility genes for complex epilepsy.
TLDR
It is speculated that these and other as yet undiscovered susceptibility genes for complex epilepsy could act as 'modifier' loci, affecting penetrance and expressivity of the mutations of large effect in those 'monogenic' epilepsies with simple inheritance that segregate through large families. Expand
Ion channels in epilepsy.
  • I. Módy
  • Chemistry, Medicine
  • International review of neurobiology
  • 1998
TLDR
Insight into the processes whereby ion channels become "epileptic" may finally open the way to prophylactic treatments of the epilepsies, and understanding of the specific structure, function, and pharmacology of these channels will yield important clues for future therapeutic approaches aimed at preventing epileptogenesis. Expand
Genetic mechanisms that underlie epilepsy
  • O. Steinlein
  • Biology, Medicine
  • Nature Reviews Neuroscience
  • 2004
TLDR
Each 'epilepsy gene' that is identified provides new and fascinating insights into the molecular basis of neuronal excitability and brain function. Expand
Acquired Dendritic Channelopathy in Temporal Lobe Epilepsy
TLDR
A form of channelopathy that is acquired in experimental temporal lobe epilepsy (TLE) is reported, likely to amplify neuronal activity and may contribute to the initiation and/or propagation of seizures in TLE. Expand
Maturational Aspects of Epilepsy Mechanisms and Consequences for the Immature Brain
TLDR
The developmental regulation of several factors may contribute to seizure susceptibility and epileptogenesis in the developing brain and how these may be functionally altered by early-life seizures or AED treatment is discussed. Expand
SCN1A mutations and epilepsy
TLDR
Of all the known epilepsy genes SCN1A is currently the most clinically relevant, with the largest number of epilepsy related mutations so far characterized, and some clustering of mutations is observed in the C‐terminus and the loops between segments 5 and 6 of the first three domains of the protein. Expand
...
1
2
3
4
5
...