Benign adult familial myoclonic epilepsy (BAFME) with night blindness
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چکیده
منابع مشابه
Benign adult familial myoclonic epilepsy (BAFME) with night blindness
This is the first report of benign adult familial myoclonic epilepsy (BAFME) with night blindness. Our cases of BAFME (mother, son, and daughter) demonstrated night blindness with a reduced b-wave response on electroretinography (ERG) suggesting an alteration in calcium-mediated neurotransmitter release from photoreceptors in response to light. Several familial epilepsies have been shown to be ...
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Benign adult familial myoclonic epilepsy is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks, and seizures with no signs of early dementia. Worldwide prevalence is unknown, but is estimated to be less than 1/35,000. It is transmitted autosomal dominantly, and penetrance is high. This is a well-delineated disease with remarkable features that clearly distin...
متن کامل[Recent advance in research of benign adult familial myoclonus epilepsy (BAFME): is BAFME a progressive disorder?].
Benign adult familial myoclonus epilepsy (BAFME) is an adult onset, autosomal dominant disease characterized by cortical tremor and infrequent generalized seizures. BAFME was considered as non-progressive, but cortical tremor worsened in some of the aged patients. We investigated the disease progression of BAFME. Cortical tremor significantly worsened and amplitudes of giant somatosensory evoke...
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متن کاملBenign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene.
The genetic differences between two types of dominant inherited myoclonus epilepsy, dentatorubral pallidoluysian atrophy (DRPLA) and benign adult familial myoclonus epilepsy (BAFME), have been reported. A gene with a CAG repeat expansion responsible for DRPLA has been isolated. We have examined CAG repeat expansion in the DRPLA gene in five BAFME families, and the abnormal CAG expansion was not...
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ژورنال
عنوان ژورنال: Seizure
سال: 2002
ISSN: 1059-1311
DOI: 10.1053/seiz.2001.0606