Neurology Medical News

Become a Member Today!
Register

Most Viewed Abstracts

1. Report Shows Shift in Starting Salaries for Physicians

2. 2008 Exclusive Survey—Earnings: Good news for primary care income

3. Medicare pay-for-reporting effort draws fire from frustrated doctors

4. Debunking Myths in the US Healthcare System

5. Doctors and the DEA Free full text

Your Article Summary

See Latest Articles

(Click the title below to leave the MDLinx Network and go to the Journal's Website)

Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: electroclinical, genetic, and EEG/fMRI findings
Epilepsia, 06/24/09

Di Bonaventura C et al. - The affected members who were studied had drug-resistant seizures. In the proband, seizures with predominant dysphasic features often occurred as partial status epilepticus. The video-EEG-documented ictal activity and fMRI activation clearly indicated the elective involvement of the left posterior lateral temporal cortex. Sequencing of LGI1 exons revealed a heterozygous c.367G>A mutation in exon 4, resulting in a Glu123Lys substitution in the protein sequence. The uncommon clinical pattern (high seizure frequency, drug-resistance) highlights the variability of the ADLTE phenotype and extends our knowledge of the clinical spectrum associated with LGI1 mutations.