Results 101 to 110 of about 1,142,913 (203)

Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research

open access: yesFrontiers in Neurology
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
doaj   +1 more source

A comparative investigation of longevity and morbidity in Angelman syndrome and Prader-Willi syndrome [PDF]

open access: yes, 2005
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.
core  

Angelman Syndrome and Epilepsy

open access: yes, 2006
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
core   +1 more source

Motor Impairments in Angelman Syndrome

open access: yes, 2004
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
core   +1 more source

Exploring an objective measure of overactivity in children with rare genetic syndromes

open access: yesJournal of Neurodevelopmental Disorders
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
doaj   +1 more source

Angelman Syndrome without Chromosome Anomaly

open access: yes, 1998
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
core   +1 more source

EEG Patterns in Angelman Syndrome

open access: yes, 2003
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
core   +1 more source

Gastrointestinal manifestations in Angelman syndrome with accompanying epilepsy: a pediatric case report

open access: yesEgyptian Pediatric Association Gazette
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
doaj   +1 more source

Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome

open access: yes, 2004
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
core   +1 more source

Molecular and Clinical Aspects of Angelman Syndrome

open access: yes, 2011
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
core   +1 more source

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