|
Sign In to gain access to subscriptions and/or personal tools.
|
REVIEW  : The Genetic Basis of Epilepsy: Mutant Alleles of Ligand- and Voltage-Gated Ion Channels
Ortrud K. Steinlein
Institute for Human Genetics University of Bonn Bonn, Germany
Idiopathic epilepsies are a heterogenous group of conditions characterized by different types of seizures, ages of onset, and EEG features. By definition, idiopathic epilepsies show no underlying cause other than a possible inherited predisposition. For most syndromes, especially the common ones, the mode of inheritance is complex rather than monogenetic. However, some rare idiopathic epilepsies show an autosomal dominant mode of inheritance, and genetic studies have been most successful in these diseases. Thus far, genes underlying the rare syndromes of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), benign familial neonatal convulsions (BFNC), and generalized epilepsy with febrile seizures plus (GEFS+) have been cloned. The first genes that were identified code for different types of ion channel proteins. Thus, it is likely that ion channels play an important role in the etiology of complex inherited forms of idiopathic epilepsies. A detailed under standing of the pathophysiological implications of these results could have important implications for the de velopment of target-specific antiepileptic drugs. NEUROSCIENTIST 5:295-301, 1999
Key Words: KEY WORDS Acetylcholine receptor • Potassium channel • Sodium channel • Epilepsy
The Neuroscientist, Vol. 5, No. 5,
295-301 (1999)
DOI: 10.1177/107385849900500515
 CiteULike  Complore  Connotea  Del.icio.us  Digg  Reddit  Technorati  Twitter What's this?
|
|
