http://www.cnr.it/ontology/cnr/individuo/prodotto/ID320416

Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation (Articolo in rivista)

Type

Articolo in rivista (Classe)
Prodotto della ricerca (Classe)

Label

Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation (Articolo in rivista) (literal)

Anno

2011-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

10.1212/WNL.0b013e318212ab2e (literal)

Alternative label

Striano, Pasquale; Busolin, Giorgia; Santulli, Lia; Leonardi, Emanuela; Coppola, Antonietta; Vitiello, Libero; Rigon, Laura; Michelucci, Roberto; Tosatto, Silvio C E; Striano, Salvatore; Nobile, Carlo (2011)
Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation
in Neurology
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Striano, Pasquale; Busolin, Giorgia; Santulli, Lia; Leonardi, Emanuela; Coppola, Antonietta; Vitiello, Libero; Rigon, Laura; Michelucci, Roberto; Tosatto, Silvio C E; Striano, Salvatore; Nobile, Carlo (literal)

Pagina inizio

1173 (literal)

Pagina fine

1176 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

http://www.scopus.com/record/display.url?eid=2-s2.0-79954525041&origin=inward (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

76 (literal)

Rivista

Neurology (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

4 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

13 (literal)

Note

Scopu (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

Universita degli Studi di Genova; Universita degli Studi di Padova; the Epilepsy Centre; Universita degli Studi di Napoli Federico II; Ospedale Bellaria (literal)

Titolo

Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation (literal)

Abstract

Background: Autosomal dominant lateral temporal epilepsy (ADLTE) is characterized by focal seizures with auditory features or aphasia. Mutations in the LGI1 gene have been reported in up to 50% of ADLTE pedigrees. We report a family with temporal lobe epilepsy characterized by psychic symptoms associated with a novel LGI1 mutation. Methods: All participants were personally interviewed and underwent neurologic examination and video-EEG recordings. LGI1 exons were sequenced by standard methods. Mutant cDNA was transfected into human embryonic kidney 293 cells; both cell lysates and media were analyzed by Western blot. In silico modeling of the Lgi1 protein EPTP domain was carried out using the structure of WD repeat protein and manually refined. Results: Three affected family members were ascertained, 2 of whom had temporal epilepsy with psychic symptoms (déjà vu, fear) but no auditory or aphasic phenomena, while the third had complex partial seizures without any aura. In all patients, we found a novel LGI1 mutation, Arg407Cys, which did not hamper protein secretion in vitro. Mapping of the mutation on a 3-dimensional protein model showed that this mutation does not induce large structural rearrangements but could destabilize interactions of Lgi1 with target proteins. Conclusions: The Arg407Cys is the first mutation with no effect on Lgi1 protein secretion. The uncommon, isolated psychic symptoms associated with it suggests that ADLTE encompasses a wider range of auras of temporal origin than hitherto reported. © 2011 by AAN Enterprises, Inc. All rights reseved. (literal)

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