Epilepsy syndrome idiopathic

The CASR has been further implicated in neurological functions since an idiopathic epilepsy locus was mapped to the CASR locus and novel, rare missense CASR variants were identified in idiopathic generalized epilepsy [58, 59]. Mutations involved in the idiopathic epilepsy syndrome disrupt an arginine-rich retention motif in the proximal part of the CASR cytoplasmic tail promoting greater cell-surface expression and activity of the CASR than normal [59]. 

Kapoor A, Satishchandra P, Ratnapriya R et al (2008) An idiopathic epilepsy syndrome linked to 3ql3.3-q21 and missense mutations in the extracellular calcium-sensing receptor gene. Ann Neurol 64 158-167... 

Stepanchick A, McKenna J, McGovern O et al (2010) Calcium-sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif. Cell Physiol Biochem 26 363-374... 

Valproic acid is the drug of choice for myoclonic seizures in juvenile myoclonic epilepsy, in which myoclonic seizures often coexist with tonic-clonic and absence seizures. No trials have examined any of the newly introduced drugs for patients with juvenile myoclonic epilepsy or other idiopathic generalized epilepsy syndromes. 

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... 

Idiopathic epilepsies These syndromes are thought to be due to genetic alterations, but the underlying etiology is not identified. Neurologic functions are completely normal apart from the occurrence of seizures. 

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). 

TABLE 37-3 Idiopathic human epilepsies genes and syndromes... 

Primary epilepsy When no specific anatomic cause for the seizure, such as trauma or neoplasm, is evident the syndrome is called idiopathic or primary epilepsy. These seizures may be produced by an inherited abnormality in the central nervous system (CNS). Patients are treated chronically with antiepileptic drugs, often for life. 

Clues on the physiological role of neuronal nicotinic receptors come from the identification of a form of human epilepsy that can be caused by mutations in either the a4 or the J32 nicotinic subunits. This rare syndrome, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), was the first idiopathic epilepsy to be identified as a monogenic disorder (244), and consists of seizures that occur during light... 

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