Mutazione de novo (1420C→T) del gene LGI1 in un caso sporadico di epilessia parziale con sintomi uditivi

Translated title of the contribution: A de novo LGI1 mutation (1420C→T) in sporadic partial epilepsy with auditory features

F. Bisulli, I. Naldi, A. Bagattin, E. Scudellaro, P. Avoni, P. Tinuper, R. Michelucci, C. Nobile

Research output: Contribution to journalArticle

Abstract

We describe the first sporadic PEAF (Partial epilepsy with auditory features) patient carrying a de novo LGI1 mutation (1420C→T). A 55-year old Italian woman, with a positive history of febrile seizures, from the age of 19 had rare seizures characterized by auditory aura followed by generalization. At the age of 34 she stopped therapy and seizures relapsed. Thereafter she resumed carbamazepine and has been seizure-free for 13 years. LGI1 sequence analysis revealed a C→T transition in 1420 position in exon 8 (1420C→T), introducing a stop codon and resulting in protein truncation. This mutation was detected in the affected woman but not in her parents. The case presented here provides evidence that de novo LGI1 mutations can occur in sporadic PEAF cases, albeit at low frequency.

Original languageItalian
Pages (from-to)57-59
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number125-126
Publication statusPublished - Jul 2004

Fingerprint

Seizures
Mutation
Febrile Seizures
Terminator Codon
Carbamazepine
Sequence Analysis
Exons
Epilepsy
Parents
Autosomal Dominant Lateral Temporal Lobe Epilepsy
Proteins
Therapeutics

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Mutazione de novo (1420C→T) del gene LGI1 in un caso sporadico di epilessia parziale con sintomi uditivi. / Bisulli, F.; Naldi, I.; Bagattin, A.; Scudellaro, E.; Avoni, P.; Tinuper, P.; Michelucci, R.; Nobile, C.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 125-126, 07.2004, p. 57-59.

Research output: Contribution to journalArticle

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AU - Bagattin, A.

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