Epilepsy genes: The link between molecular dysfunction and pathophysiology
Carl E. Stafstrom,
Bruce L. Tempel,
Corresponding Author
Carl E. Stafstrom
Departments of Neurology and Pediatrics, University of Wisconsin, Madison, Wisconsin
Department of Neurology, H4-614 CSC, University of Wisconsin, 600 Highland Avenue, Madison, WI 53792Search for more papers by this authorBruce L. Tempel
Department of Otolaryngology–Head and Neck Surgery, The Bloedel Hearing Research Center, University of Washington School of Medicine, Seattle, Washington
Search for more papers by this authorCarl E. Stafstrom,
Bruce L. Tempel,
Corresponding Author
Carl E. Stafstrom
Departments of Neurology and Pediatrics, University of Wisconsin, Madison, Wisconsin
Department of Neurology, H4-614 CSC, University of Wisconsin, 600 Highland Avenue, Madison, WI 53792Search for more papers by this authorBruce L. Tempel
Department of Otolaryngology–Head and Neck Surgery, The Bloedel Hearing Research Center, University of Washington School of Medicine, Seattle, Washington
Search for more papers by this authorFirst published: 30 November 2000
Citations: 10
Abstract
Our understanding of the genetic basis of epilepsy is progressing at a rapid pace. Gene mutations causing several of the inherited epilepsies have been mapped, and several more are likely to be added in coming years. In this review, we summarize the available information on the genetic basis of human epilepsies and epilepsy syndromes, emphasizing how genetic defects may correlate with the pathophysiological mechanisms of brain hyperexcitability. Mutations leading to epilepsy have been identified in genes encoding voltage- and ligand-gated ion channels (benign familial neonatal convulsions, autosomal dominant nocturnal frontal lobe epilepsy, generalized epilepsy with febrile seizures “plus”), neurotransmitter receptors (Angelman syndrome), the molecular cascade of cellular energy production (myoclonic epilepsy with ragged red fibers), and proteins without a known role in neuronal excitability (Unverricht-Lundborg disease). Gene defects can lead to epilepsy by altering multiple and diverse aspects of neuronal function. MRDD Research Reviews 2000;6:281–292. © 2000 Wiley-Liss, Inc.
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