Partial Epilepsy with Auditory Features
نویسندگان
چکیده
منابع مشابه
Epilepsy with auditory features
Objective: To identify novel genes implicated in epilepsy with auditory features (EAF) in phenotypically heterogeneous families with unknown molecular basis. Methods: We identified 15 probands with EAF in whom an LGI1 mutation had been excluded. We performed electroclinical phenotyping on all probands and available affected relatives. We used whole-exome sequencing (WES) in 20 individuals with ...
متن کاملLGI1 mutations in autosomal dominant partial epilepsy with auditory features.
OBJECTIVE S: Mutations in LGI1 cause autosomal dominant partial epilepsy with auditory features (ADPEAF), a form of familial temporal lobe epilepsy with auditory ictal manifestations. The authors aimed to determine what proportion of ADPEAF families carries a mutation, to estimate the penetrance of identified mutations, and to identify clinical features that distinguish families with and withou...
متن کاملIdiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases.
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 ...
متن کاملEpilepsy with auditory features: A heterogeneous clinico-molecular disease.
OBJECTIVE To identify novel genes implicated in epilepsy with auditory features (EAF) in phenotypically heterogeneous families with unknown molecular basis. METHODS We identified 15 probands with EAF in whom an LGI1 mutation had been excluded. We performed electroclinical phenotyping on all probands and available affected relatives. We used whole-exome sequencing (WES) in 20 individuals with ...
متن کاملAuditory brainstem response, middle-latency response, and slow cortical potential in patients with partial epilepsy
Auditory brainstem responses (ABRs), middle-latency responses (MLRs), and slow cortical potentials (SCPs) have been recorded in patients with partial epilepsy previously untreated by anticonvulsants. Peak latencies, interpeak intervals, and amplitudes were estimated and the mean group values were compared with the respective data in age- and gender-matched healthy individuals. Neither ABRs nor ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2004
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-18-7-6