Autosomal Dominant Partial Epilepsy with Auditory Features
نویسندگان
چکیده
منابع مشابه
LGI1 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...
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two iranian families with autosomal dominant dementia-plus were observed. one family includes 3 affected members and the other includes 4. the two families showed a dominantly inherited complex neurological syndrome with onset in childhood to adulthood. one patient showed prominent anticipation of the onset age. onset was with cerebellar signs followed by dementia, seizures, and extrapyramidal ...
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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 ...
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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 ...
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The disorder of autosomal dominant nocturnal frontal lobe epilepsy has recently been identified, and is now delineated in detail. A phenotypically homogeneous group of five families from Australia, Britain and Canada, containing 47 affected individuals, was studied. The largest family contained 25 affected individuals spanning six generations. This disorder is characterized by clusters of brief...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2009
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-23-1-9