Epilepsia
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Mutations in the leucine rich, glioma inactivated gene (LGI1) were recently described in a small number of families with autosomal dominant lateral temporal epilepsy (ADLTE). ADLTE is characterized by partial seizures with symptoms suggestive of a lateral temporal onset, including frequent auditory aura. Here we report the results of clinical and genetic analyses of two newly identified families with ADTLE. ⋯ We identified two novel mutations in the LGI1 gene. The phenotype of these two families was similar to that of other kindreds with ADLTE, as auditory aura was absent in one third of affected individuals. Our results further support that LGI1 mutations should be considered in patients with a history of partial seizures if the semiology of seizures is consistent with the onset in the lateral temporal lobe.
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Comparative Study
Stimulus-induced rhythmic, periodic, or ictal discharges (SIRPIDs): a common EEG phenomenon in the critically ill.
To describe an underrecognized EEG phenomenon in critically ill patients undergoing continuous EEG monitoring (cEEG). We named these EEG patterns stimulus-induced rhythmic, periodic, or ictal discharges (SIRPIDs). ⋯ Rhythmic, periodic, or ictal-appearing EEG patterns are commonly elicited by stimulation in critically ill, encephalopathic patients. Recording video, documenting patient stimulation, or repetitively examining patients during cEEG is necessary to recognize these patterns and to differentiate SIRPIDs from spontaneous seizures. Further research is necessary to determine the pathophysiologic, prognostic, and therapeutic significance of SIRPIDs.
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Magnetoencephalography (MEG)-also known as magnetic source imaging when combined with magnetic resonance imaging-has developed to the point that it has now entered routine clinical application. Epilepsy MEG studies show that it can accurately localize spike sources--both ictal and interictal--as compared to both direct (intracranial EEG) and indirect (imaging abnormalities) measures. ⋯ Magnetoencephalography not only provides a novel tool to localize and characterize epileptiform disturbances, it also has an important role in determining the significance of abnormalities seen on both structural and functional imaging. Combined with mapping of normal or eloquent brain function, MEG should ultimately play a major role in the totally noninvasive epilepsy surgery evaluation.
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Tuberous sclerosis complex (TSC) is associated with medically refractory seizures and developmental delay in children. These epilepsies are often resistant to antiepileptic drugs (AEDs), may be quite severe, and usually have a negative impact on the child's neurological and cognitive development. It is believed that functional outcome is improved if seizures can be controlled at an early age. ⋯ Multiple or bilateral seizure foci are not necessarily a contraindication to surgery in selected TSC patients. Long-term follow-up will determine whether this approach has durable effects. We await better methods for identifying the epileptogenic zone, both noninvasive and invasive.
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Randomized Controlled Trial Multicenter Study Comparative Study Clinical Trial
Pregabalin add-on treatment: a randomized, double-blind, placebo-controlled, dose-response study in adults with partial seizures.
To evaluate pregabalin (PGB), 150 mg/day, and PGB, 600 mg/day, as an add-on treatment for patients with refractory partial seizures concurrently treated with one to three anticonvulsants (AEDs). ⋯ PGB, 150 mg/day and 600 mg/day, is highly effective and well-tolerated add-on therapy in patients with partial seizures.