Genetic characteristics of non-familial epilepsy
نویسندگان
چکیده
منابع مشابه
Intra-familial incidence and characteristics of hot water epilepsy.
OBJECTIVE To assess the clinical features of several members of the same family diagnosed with both hot water epilepsy (HWE) and cerebral lesions. METHODS Age at onset and types of seizure, precipitating factors, EEG findings, and neuroimages were evaluated. RESULTS The family consisted of six generations, including one consanguineous parent. Of eight family members diagnosed with epilepsy,...
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Epilepsy is a common neurological disorder with an incidence of approximately 0.5%. In order to develop better strategies for treatment of epilepsy, more insight on the etiology and pathogenesis of epilepsy is required. In 2001, based on the diagnostic scheme of the International League Against Epilepsy, three new forms of familial epilepsy were identified. These include familial temporal lobe ...
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Seven cases of progressive familial myoclonus epilepsy occurring in three families are presented. The patients were in different stages of the illness. The EEG was abnormal in all. It is suggested that these cases belong clinically to the Lafora bodies group. Nystagmus and optic atrophy, seen in one patient, have not been described previously. Myoclonic jerks did not respond to treatment with d...
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Background: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. Methods: To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common ME...
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Objective Globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. Researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of DPY19L2 or mutations in SPATA16 and PICK1 genes associated with globozoospermia. The aim of this study was to analyze the DPY19L2 gene deletion using polymerase chain reaction technique for th...
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ژورنال
عنوان ژورنال: PeerJ
سال: 2019
ISSN: 2167-8359
DOI: 10.7717/peerj.8278