NDLI: Translational Research in Epilepsy Genetics: Sodium Channels in Man to Interneuronopathy in Mouse

Content Provider	JAMA Network
Author	Mullen, Saul A. Scheffer, Ingrid E.
Copyright Year	2009
Abstract	Voltage-gated sodium channels are critical for membrane excitability. Mutations in the genes coding for these proteins cause diseases related to altered excitability of cardiac or skeletal muscle and neurons. Mutations in the central nervous system–specific voltage-gated sodium channel α1 subunit gene ( SCN1A) lead not only to seizure syndromes but also to familial hemiplegic migraine. The epilepsies range from benign febrile seizures to the catastrophic epileptic encephalopathy of Dravet syndrome (severe myoclonic epilepsy of infancy). Recently developed animal models of: SCN1Amutants recapitulate the human disease. These models exemplify the potential inherent in translational research to debunk preconceived ideas regarding pathogenesis by showing the cellular substrate of Dravet syndrome to be interneurons rather than excitatory cells. This illustrates the key role that basic science plays in the development of targeted novel therapies and, ultimately, in the prevention of devastating genetic disorders.
Ending Page	26
Starting Page	21
Page Count	6
File Format	PDF HTM / HTML
ISSN	00039942
DOI	10.1001/archneurol.2008.559
Issue Number	1
Journal	Archives of Neurology
Volume Number	66
Language	English
Publisher	American Medical Association
Publisher Date	2009-01-01
Access Restriction	Open
Subject Keyword	epilepsy mutation febrile seizures sodium channel mice infantile severe myoclonic epilepsy translational research myoclonic seizure encephalopathic epilepsy animal model voltage-gated sodium channels familial hemiplegic migraine epilepsy genetics genes interneurons neurons
Content Type	Text
Resource Type	Article
Subject	1200/1201 Neurology (clinical)

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