http://www.cnr.it/ontology/cnr/individuo/prodotto/ID37623

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. (Articolo in rivista)

Type

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

Label

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. (Articolo in rivista) (literal)

Anno

2003-01-01T00:00:00+01:00 (literal)

Alternative label

Michelucci R, Poza JJ, Sofia V, De Feo Mr, Binelli S, Bisulli F, Scudellaro E, Simionati B, Zimbello R, D?Orsi G, Passarelli D, Avoni P, Avanzini G, Tinuper P, Biondi R, Valle G, Mautner Vf, Stephani U, Tassinari Ca, Moschonas Nk, Siebert R, Lopez De Muna (2003)
Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families.
in Epilepsia (Cph.)
(literal)

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

Michelucci R, Poza JJ, Sofia V, De Feo Mr, Binelli S, Bisulli F, Scudellaro E, Simionati B, Zimbello R, D?Orsi G, Passarelli D, Avoni P, Avanzini G, Tinuper P, Biondi R, Valle G, Mautner Vf, Stephani U, Tassinari Ca, Moschonas Nk, Siebert R, Lopez De Muna (literal)

Pagina inizio

1289 (literal)

Pagina fine

1297 (literal)

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I.F. 3,530 (literal)

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

44 (literal)

Rivista

Epilepsia (Rivista)

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pubblicazione su rivista ISI (literal)

Note

ISI Web of Science (WOS) (literal)

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UNI di Bologna, , UNI di Catania, UNI La Sapienza di Roma, Istituto Nazionale Neiurologico \"Carlo Besta\" di Milano, UNI di Kiel - Germania, UNI di Valencia-Spagna, UNI di Padova (literal)

Titolo

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. (literal)

Abstract

Purpose To describe the clinical and genetic findings of 7 additional pedigrees with Autosomal Dominant Lateral Temporal Epilepsy (ADLTE). Methods A personal and family history was obtained from each affected and unaffected member along with a physical and neurological examination. Routine and sleep EEGs, CT or MRI were performed in almost all the patients. DNAs from family members were typed with several microsatellite markers localized on either side of LGI1 at 10q24 and screened for LGI1 mutations. Results The 7 families included a total of 34 affected individuals (11 deceased). The age of onset ranged between 8 to 50 years (average 21). Twenty six patients had clear-cut focal (elementary, complex or secondarily generalized) seizures, characterized by prominent auditory auras in 68 % of the cases. Less frequent ictal symptoms were visual, psychic or aphasic seizures, the latter occurring in isolation in one family. The attacks were rare and well controlled by antiepileptic treatment but recurred after drug withdrawal. Interictal EEGs were usually unrevealing. MRI or CT scans were negative. Analysis of LGI1/Epitempin exons failed to show mutations in three pedigrees. Linkage analysis strongly suggested exclusion of linkage in one of these families. We found two novel missense mutations, a T>C substitution in exon 6 at position 598 and a T>A transition in exon 8 at position 1295, the latter being detected in a family with aphasic seizures. Conclusions Our data confirm the inclusion of aphasic seizures within the ADLTE clinical spectrum, suggest the existence of locus heterogeneity in ADLTE, and provide new familial cases with LGI1 missense mutations associated with the disease. (literal)

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