Genetic Approaches to Studying Mouse Models of Human Seizure Disorders

  • Yan Yang
  • Wayne N. Frankel
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 548)


Epilepsy, characterized by recurrent spontaneous seizures resulting from abnormal, synchronized discharges of neurons in the brain, is one of the most common neurological problems afflicting humans. Although epilepsy clearly has a large environmental component, genetics is thought to be important in the pathogenesis of at least 50% of cases.1 While common epilepsy genes have yet to be identified in humans, several genes have now been identified for rarer, monogenic epilepsies through linkage analysis or association studies followed by positional cloning.2 In parallel, the identification of candidate genes in mouse epilepsy models also facilitates the discovery of human disease genes, as shown for at least one case of idiopathic generalized epilepsy.3,4 Indeed, many features of seizures and the means by which they are induced are conserved in mammals,5 indicating common neural substrates or pathways. Mice already contribute significantly to the discovery of all the currently available antiepileptic drugs and remain a critical part of the comprehensive screening process in the search for new anticonvulsant drugs. In general, mice can provide excellent genetic models for epilepsy by permitting systematic dissection of the molecular and pathophysiologic factors that predispose to seizures in large, genetically homogenous populations.6


Seizure Threshold Inbred Mouse Strain Juvenile Myoclonic Epilepsy Spontaneous Seizure Idiopathic Generalize Epilepsy 
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Copyright information

© Springer Science+Business Media New York 2004

Authors and Affiliations

  • Yan Yang
  • Wayne N. Frankel

There are no affiliations available

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