IngentaConnect Drug resistant ADLTE and recurrent partial status epilepticus wit...

Authors: Bonaventura, Carlo Di¹; Carni, Marco; Diani, Erica²; Fattouch, Jinane¹; Vaudano, Elisabetta A.¹; Egeo, Gabriella; Pantano, Patrizia¹; Maraviglia, Bruno; Bozzao, Luigi¹; Manfredi, Mario; Prencipe, Massimiliano¹; Giallonardo, Teresa A.¹; Nobile, Carlo²

Source: Epilepsia, Volume 50, Number 11, November 2009 , pp. 2481-2486(6)

Publisher: Blackwell Publishing

Abstract:

Summary 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.

Keywords: LGI1/Epitempin; ADLTE; EEG/fMRI

Document Type: Research article

DOI: 10.1111/j.1528-1167.2009.02181.x

Affiliations: 1: Departments of Neurological Sciences 2: CNR-Institute of Neurosciences, section of Padua, Padua, Italy

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