Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1 mutation: electroclinical, genetic, and EEG/fMRI findings

被引:26
作者
Di Bonaventura, Carlo [1 ]
Carni, Marco [2 ,3 ,4 ]
Diani, Erica [5 ]
Fattouch, Jinane [1 ]
Vaudano, Elisabetta A. [1 ]
Egeo, Gabriella [1 ,6 ]
Pantano, Patrizia [1 ]
Maraviglia, Bruno [2 ,3 ]
Bozzao, Luigi [1 ]
Manfredi, Mario [7 ]
Prencipe, Massimiliano [1 ]
Giallonardo, Teresa A. [1 ]
Nobile, Carlo [5 ]
机构
[1] Univ Roma La Sapienza, Dept Neurol Sci, I-00185 Rome, Italy
[2] Univ Roma La Sapienza, Dept Phys, I-00185 Rome, Italy
[3] Enrico Fermi Ctr, Rome, Italy
[4] Bambino Gesu Paediat Hosp, Med Phys Unit, Occupat & Safety Hlth Dept, Rome, Italy
[5] CNR, Inst Neurosci, Sect Padua, Padua, Italy
[6] San Raffaele Pisana IRCCS, Rome, Italy
[7] Univ Roma La Sapienza, Neuromed Inst Pozzilli, I-00185 Rome, Italy
关键词
LGI1/Epitempin; ADLTE; EEG/fMRI; LATERAL TEMPORAL EPILEPSY; DOMINANT PARTIAL EPILEPSY; APHASIC SEIZURES; LOBE EPILEPSY; AUDITORY FEATURES; CHROMOSOME; 10Q; LINKAGE;
D O I
10.1111/j.1528-1167.2009.02181.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:2481 / 2486
页数:6
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