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Sleep polygraphy in Angelman syndrome
Clinical Neurophysiology, 2004Sleep disturbances are frequent in Angelman syndrome (AS); however, beside the few studies which have investigated sleep disorders in AS by means of questionnaires, to our knowledge, no systematic polysomnographic recordings have been carried out in AS patients.
MIANO S +5 more
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2004
Abstract If a child presents with hypotonia, myoclonic seizures, and lactic acidosis, a mitochondrial disorder should be strongly considered. However, the results of laboratory tests that often confirm the diagnosis of a mitochondrial disorder, such as muscle biopsy, mitochondrial DNA studies, and magnetic resonance imaging, were normal ...
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Abstract If a child presents with hypotonia, myoclonic seizures, and lactic acidosis, a mitochondrial disorder should be strongly considered. However, the results of laboratory tests that often confirm the diagnosis of a mitochondrial disorder, such as muscle biopsy, mitochondrial DNA studies, and magnetic resonance imaging, were normal ...
openaire +1 more source
Genotype–Phenotype Correlations in Angelman Syndrome
Genes, 2021Xiaoli Shu, Lili Yang, Chaochun Zou
exaly
Clinical Characterization of Epilepsy in Children With Angelman Syndrome
Pediatric Neurology, 2021Wen-Hann Tan +2 more
exaly
On the prevalence of Angelman syndrome
American Journal of Medical Genetics, 1995openaire +2 more sources
Clinical and genetic aspects of Angelman syndrome
Genetics in Medicine, 2010Daniel J Driscoll, Charles A Williams
exaly