• Emanuela Dazzo, Lia Santulli, Annio Posar, Jinane Fattouch, Sara Conti, Martin Lodén-van Straaten, Jona Mijalkovic, Marzia De Bortoli, Maurizio Rosa, Caterina Millino, Beniamina Pacchioni, Carlo Di Bonaventura, Anna Teresa Giallonardo, Salvatore Striano, Pasquale Striano, Antonia Parmeggiani, and Carlo Nobile.
• CNR-Neuroscience Institute, Section of Padua, Padova, Italy.
• Epilepsy Res. 2015 Feb 1; 110: 132-8.

PurposeAutosomal dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy syndrome characterized by prominent auditory or aphasic symptoms. Mutations in LGI1 account for less than 50% of ADLTE families. We assessed the impact of LGI1 microrearrangements in a collection of ADLTE families and sporadic lateral temporal epilepsy (LTE) patients, and investigated novel ADLTE and LTE patients.MethodsTwenty-four ADLTE families and 140 sporadic LTE patients with no evidence of point mutations in LGI1 were screened for copy number alterations using multiplex ligation-dependent probe amplification (MLPA). Newly ascertained familial and sporadic LTE patients were clinically investigated, and interictal EEG and MRI findings were obtained; probands were tested for LGI1 mutations by direct exon sequencing or denaturing high performance liquid chromatography.ResultsWe identified a novel microdeletion spanning LGI1 exon 2 in a family with two affected members, both presenting focal seizures with visual symptoms. Also, we identified a novel LGI1 missense mutation (c.1118T > C; p.L373S) in a newly ascertained family with focal seizures with prominent visual auras, and another missense mutation (c.856T > C; p.C286R) in a sporadic patient with auditory seizures.ConclusionsWe describe two novel ADLTE families with predominant visual auras segregating pathogenic LGI1 mutations. These findings support the notion that, in addition to auditory symptoms, other types of auras can be found in patients carrying LGI1 mutations. The identification of a novel microdeletion in LGI1, the second so far identified, suggests that LGI1 microrearrangements may not be exceptional.Copyright © 2014 Elsevier B.V. All rights reserved.

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