Epilepsy syndrome symptomatic

Crosby AH (2004) Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet 36 1225-1229... 

Epilepsy is commonly categorised as idiopathic, symptomatic, probable symptomatic (previously known as cryptogenic) and reactive. Idiopathic epilepsies are presumed to have an underlying genetic canse indeed ion channelopathies have been identified in several human idiopathic epilepsy syndromes (Gardiner, 2(X)5). Symptomatic epilepsies, which are thought to account for up to 50% of all epilepsy cases (Delorenzo et al., 2005), arise secondary to an underlying identifiable brain insult or lesion such as stroke, intracranial neoplasia or encephalitis. Probable... 

A complete description of a patient s epilepsy should include the seizure type with the epilepsy or syndrome type (i.e., idiopathic, symptomatic, or cryptogenic). 

The epilepsies constitute a common, serious neurological disorder in humans, affecting approximately 60 million people worldwide. Well in excess of 40 distinct epileptic syndromes have been identified to date. Current treatment is only symptomatic except in uncommon instances when surgical treatment is possible. While available antiseizure medications target ion channels such as the y-amino-butyric acid (GABA)a receptor and voltage activated sodium (Na+) channels, current research seeks to elucidate the cellular and molecular mechanisms by which a normal brain becomes epileptic. Hopefully, this research will lead to the identification of new targets for which small molecules can be identified and used for prevention or cure of epilepsy. 

TABLE 37-4 Symptomatic human epilepsies genes and syndromes ... 

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