TY - JOUR
T1 - Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation
T2 - Electroclinical, genetic, and EEG/fMRI findings
AU - Bonaventura, Carlo Di
AU - Carni, Marco
AU - Diani, Erica
AU - Fattouch, Jinane
AU - Vaudano, Elisabetta A.
AU - Egeo, Gabriella
AU - Pantano, Patrizia
AU - Maraviglia, Bruno
AU - Bozzao, Luigi
AU - Manfredi, Mario
AU - Prencipe, Massimiliano
AU - Giallonardo, Teresa A.
AU - Nobile, Carlo
PY - 2009/11
Y1 - 2009/11
N2 - 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.
AB - 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.
KW - ADLTE
KW - EEG/fMRI
KW - LGI1/Epitempin
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UR - http://www.scopus.com/inward/citedby.url?scp=70350401139&partnerID=8YFLogxK
U2 - 10.1111/j.1528-1167.2009.02181.x
DO - 10.1111/j.1528-1167.2009.02181.x
M3 - Article
C2 - 19552651
AN - SCOPUS:70350401139
VL - 50
SP - 2481
EP - 2486
JO - Epilepsia
JF - Epilepsia
SN - 0013-9580
IS - 11
ER -