Brain Advance Access originally published online on April 16, 2004
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain, Vol. 127, No. 6, 1343-1352, 2004
© 2004 Guarantors of Brain
doi: 10.1093/brain/awh151
Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases
1 Epilepsy Centre, Department of Neurological Sciences, University of Bologna, Bologna, 2 Epilepsy Centre, Department of Neurological Sciences, University Federico II, Naples, 3 Department of Biology, University of Padua, 4 CNR-Neurosciences Institute, Section of Padua, Padua, 5 Department of Neurosciences, University of Parma, Parma and 6 Epilepsy Centre, Department of Neurosciences, Bellaria Hospital, Bologna, Italy
Correspondence to: Paolo Tinuper, MD, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy. E-mail: tinuper{at}neuro.unibo.it
The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F) cases of autosomal dominant partial epilepsy with auditory features (ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed according to the following criteria: partial epilepsy with auditory symptoms, negative family history for epilepsy and absence of cerebral lesions on NMR study. All patients underwent a full clinical, neuroradiological and neurophysiological examination. Forty patients were screened for mutations in LGI1/epitempin, which is involved in ADPEAF. Age at onset ranged from 6 to 39 years (average 19 years). Secondarily generalized seizures were the most common type of seizures at onset (79%). Auditory auras occurred either in isolation (53%) or associated with visual, psychic or aphasic symptoms. Low seizure frequency at onset and good drug responsiveness were common, with 51% of patients seizure-free. Seizures tended to recur after drug withdrawal. Clinically, no major differences were found between S and F patients with respect to age at onset, seizure frequency and response to therapy. Analysis of LGI1/epitempin exons failed to disclose mutations. Our data support the existence of a peculiar form of non-lesional temporal lobe epilepsy closely related to ADPEAF but without a positive family history. This syndrome, here named IPEAF, has a benign course in the majority of patients and could be diagnosed by the presence of auditory aura. Although LGI1 mutations have been excluded, genetic factors may play an aetiopathogenetic role in at least some of these S cases.
Key Words: temporal lobe epilepsy; auditory aura; LGI1 gene; epilepsy prognosis; IPEAF
Abbreviations: ADPEAF = autosomal dominant partial epilepsy with auditory features; AED = anti-epileptic drug; CI = confidence interval; DHPLC = denaturing high-performance liquid chromatography; F = familial; FS = febrile seizure; LGI1 = leucine-rich, glioma-inactivated 1 gene; MTS = mesial temporal sclerosis; PEAF = partial epilepsy with auditory features; S = sporadic; SGTCs = secondarily generalized tonic or tonic–clonic seizures; TLE = temporal lobe epilepsy
Received October 27, 2003. Revised January 25, 2004. Accepted January 27, 2004.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  R. Michelucci, O. Mecarelli, G. Bovo, F. Bisulli, S. Testoni, P. Striano, S. Striano, P. Tinuper, and C. Nobile A DE NOVO LGI1 MUTATION CAUSING IDIOPATHIC PARTIAL EPILEPSY WITH TELEPHONE-INDUCED SEIZURES Neurology, June 12, 2007; 68(24): 2150 - 2151. [Full Text] [PDF]
|
|