Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: Electroclinical, genetic, and EEG/fMRI findings

Carlo Di Bonaventura, Marco Carni, Erica Diani, Jinane Fattouch, Elisabetta A. Vaudano, Gabriella Egeo, Patrizia Pantano, Bruno Maraviglia, Luigi Bozzao, Mario Manfredi, Massimiliano Prencipe, Teresa A. Giallonardo, Carlo Nobile

Research output: Contribution to journalArticle

Abstract

Purpose: We characterized a family with autosomal dominant lateral temporal epilepsy (ADLTE) whose proband presented uncommon electroclinical findings such as drug-resistant seizures and recurrent episodes of status epilepticus with dysphasic features. Methods: The electroclinical characteristics and LGI1 genotype were defined in the family. In the proband, the ictal pattern was documented during video-EEG monitoring and epileptic activity was mapped by EEG/fMRI. Results: 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. Conclusions: 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.

Original languageEnglish
Pages (from-to)2481-2486
Number of pages6
JournalEpilepsia
Volume50
Issue number11
DOIs
Publication statusPublished - Nov 2009

Keywords

  • ADLTE
  • EEG/fMRI
  • LGI1/Epitempin

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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    Bonaventura, C. D., Carni, M., Diani, E., Fattouch, J., Vaudano, E. A., Egeo, G., Pantano, P., Maraviglia, B., Bozzao, L., Manfredi, M., Prencipe, M., Giallonardo, T. A., & Nobile, C. (2009). 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, 50(11), 2481-2486. https://doi.org/10.1111/j.1528-1167.2009.02181.x