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. © 2009 International League Against Epilepsy.

Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: Electroclinical, genetic, and EEG/fMRI findings / Bonaventura, Carlo Di; Carni, Marco; Diani, Erica; Fattouch, Jinane; Vaudano, Anna Elisabetta; Egeo, Gabriella; Pantano, Patrizia; Maraviglia, Bruno; Bozzao, Luigi; Manfredi, Mario; Prencipe, Massimiliano; Giallonardo, Teresa A.; Nobile, Carlo. - In: EPILEPSIA. - ISSN 0013-9580. - 50:11(2009), pp. 2481-2486. [10.1111/j.1528-1167.2009.02181.x]

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

VAUDANO, Anna Elisabetta;
2009-01-01

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. © 2009 International League Against Epilepsy.
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 / Bonaventura, Carlo Di; Carni, Marco; Diani, Erica; Fattouch, Jinane; Vaudano, Anna Elisabetta; Egeo, Gabriella; Pantano, Patrizia; Maraviglia, Bruno; Bozzao, Luigi; Manfredi, Mario; Prencipe, Massimiliano; Giallonardo, Teresa A.; Nobile, Carlo. - In: EPILEPSIA. - ISSN 0013-9580. - 50:11(2009), pp. 2481-2486. [10.1111/j.1528-1167.2009.02181.x]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2828731
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