## Abstract Rett syndrome (RS) is one of the most frequent causes of mental retardation in females. As there are no known biochemical, genetic, or morphological markers, diagnosis is based on clinical phenotype including severe dementia, autism, truncal ataxia/apraxia, loss of purposeful hand movem
Cortical myoclonus in angelman syndrome
✍ Scribed by Dr. Renzo Guerrini; Paolo Bonanni; Timothy M. de Lorey; José M. Serratosa; Anne Moncla; Perrine Malzac; Charlotte Dravet; Marie Odile Igvet; Michelle Bureau; Pierre Genton; Georges Suisse; Pierre Thomas; Ferdinando Sartucci; Paolo Simi
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 994 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0364-5134
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We studied the clinical and EEG-findings in 28 adult patients (aged 20-53 years) with Angelman syndrome (AS). Twenty-three showed a maternal chromosome 15q11-13 deletion; in 5, the diagnosis was based on a combination of typical clinical findings. Compared to the clinical manifestations present in c
## Abstract We observed myoclonic movements of the fingers and wrists in two patients with a levodopa‐responsive parkinsonian syndrome most consistent with Parkinson's disease. These patients were studied with electrophysiological techniques. Brief (< 50 ms) myoclonic electromyographic discharges s
## Abstract ## Background: Abnormally enhanced cortical rhythmic activities have been reported in patients with cortical myoclonus. We recently reported a new triad‐conditioning transcranial magnetic stimulation (TMS) method to detect the intrinsic rhythms of the primary motor cortex (M1). Triad‐c
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