Results 101 to 110 of about 1,142,913 (203)
ImportanceMultidisciplinary clinics (MDCs) improve care for patients with complex, comorbid conditions through coordinated, team-based care. Despite their potential, MDCs remain underutilized and understudied in pediatric neurology, particularly for ...
Carole Bakhos +12 more
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A comparative investigation of longevity and morbidity in Angelman syndrome and Prader-Willi syndrome [PDF]
The present study examined the life histories of individuals In Western Australia with a diagnosis of Angelman or Prader-Willi syndrome. Angelman and Prader_Willi syndrome, are phenoypically diverse disorders both of which result from the failure of ...
Thomson, Allyson K.
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Angelman Syndrome and Epilepsy
Twenty-six patients with Angelman syndrome (AS), of which 19 had 15ql 1-13 maternal deletion, were studied and followed at the University of San Paulo, Brazil, with particular reference to the prevalence and type of epilepsy and its response to ...
J Gordon Millichap
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Motor Impairments in Angelman Syndrome
Of 33 children and adolescents (median age 6 years) investigated for learning disability, epilepsy, and motor dysfunction to detect suspected Angelman syndrome (AS), in a study at Goteborg University, Sweden, 23 fulfilled criteria for ...
J Gordon Millichap
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Exploring an objective measure of overactivity in children with rare genetic syndromes
Background Overactivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman syndrome, and tuberous sclerosis complex, although has been predominantly assessed using questionnaire techniques ...
Rory O’Sullivan +10 more
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Angelman Syndrome without Chromosome Anomaly
The clinical manifestations of Angelman syndrome (AS) in 12 patients without a cytogenetic or molecular defect and 28 with a deletion were compared at the Department of Neurology, Leiden University Medical Center, and other hospitals in the ...
J Gordon Millichap
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EEG Patterns in Angelman Syndrome
The sensitivity of the electroencephalogram (EEG) in the diagnosis of Angelman syndrome (AS) was studied in 26 patients (3/1 : F/M ratio) at the University of Sao Paulo Medical School ...
J Gordon Millichap, J Gordon Millichap
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Background Angelman Syndrome (AS) is a rare neurogenetic disorder characterized by developmental delay, seizures, and a distinctive behavioral profile including frequent laughter and hyperactivity. Although neurological symptoms are typically emphasized,
Kamil Aleksander Sobieszek +1 more
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Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome
Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome: We report a 26-month-old boy with Angelman syndrome associated with Lennox-Gastaut syndrome, who developed a rash and a persistent toxic hepatitis after lamotrigine ...
Caksen, H +6 more
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Molecular and Clinical Aspects of Angelman Syndrome
The Angelman syndrome is caused by disruption of the <i>UBE3A</i> gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors ...
K. Buiting, C.A. Williams, A. Dagli
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