Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: electroclinical, genetic, and EEG/fMRI findings.
OBJECTIVE
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.
Di Bonaventura
Carlo
C
Department of Neurological Sciences, University of Rome, Rome, Italy. c_dibonaventura@yahoo.it
Carni
Marco
M
Diani
Erica
E
Fattouch
Jinane
J
Vaudano
Elisabetta A
EA
Egeo
Gabriella
G
Pantano
Patrizia
P
Maraviglia
Bruno
B
Bozzao
Luigi
L
Manfredi
Mario
M
Prencipe
Massimiliano
M
Giallonardo
Teresa A
TA
Nobile
Carlo
C
D000328:Adult; D000368:Aged; D000927:Anticonvulsants / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D004351:Drug Resistance; D004569:Electroencephalography / Q000706:statistics & numerical data*; D004833:Epilepsy, Temporal Lobe / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008279:Magnetic Resonance Imaging / Q000706:statistics & numerical data*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D013226:Status Epilepticus / Q000235:genetics / Q000503:physiopathology; D013702:Temporal Lobe / Q000503:physiopathology; D014741:Video Recording
D000927:Anticonvulsants; D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins