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.
|Translated title of the contribution||A de novo LGI1 mutation (1420C→T) in sporadic partial epilepsy with auditory features|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Jul 2004|
ASJC Scopus subject areas
- Clinical Neurology