S19-2. Benign adult familial myoclonus epilepsy (BAFME)
نویسندگان
چکیده
منابع مشابه
[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...
متن کاملBenign 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 ...
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...
متن کاملBenign adult familial myoclonic epilepsy
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 کاملProgressive familial myoclonus epilepsy.
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Clinical Neurophysiology
سال: 2019
ISSN: 1388-2457
DOI: 10.1016/j.clinph.2019.06.149