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  • Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases
  • Bisulli F; Tinuper P; Avoni P; Striano P; Striano S; d'Orsi G; Vignatelli L; Bagattin A; Scudellaro E; Florindo I; Nobile C; Tassinari CA; Baruzzi A; Michelucci R
  • Brain 2004[Jun]; 127 (Pt 6): 1343-52
  • 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.
  • |*Auditory Perception[MESH]
  • |Adolescent[MESH]
  • |Adult[MESH]
  • |Age of Onset[MESH]
  • |Child[MESH]
  • |DNA Mutational Analysis[MESH]
  • |Epilepsy, Partial, Sensory/*diagnosis/genetics/psychology[MESH]
  • |Female[MESH]
  • |Genetic Predisposition to Disease[MESH]
  • |Humans[MESH]
  • |Male[MESH]
  • |Mutation[MESH]
  • |Perceptual Disorders/*etiology/genetics[MESH]
  • |Prognosis[MESH]
  • |Proteins/genetics[MESH]
  • |Treatment Outcome[MESH]





  • *{{pmid15090473}}
    *<b>[http://www.kidney.de/mlpefetch.php?search=15090473 Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases ]</b> Brain 2004; 127(Pt 6) ; 1343-52 Bisulli F; Tinuper P; Avoni P; Striano P; Striano S; d'Orsi G; Vignatelli L; Bagattin A; Scudellaro E; Florindo I; Nobile C; Tassinari CA; Baruzzi A; Michelucci R

        *15090473*

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    Brain

    1343 Pt 6.127 2004