Search results for "UBE3A"

showing 3 items of 3 documents

The angelman syndrome: A brief review

2017

Angelman's Syndrome (AS) was described for the first time by Harry Angelman in the 1960s, based on obervation of three child patients with similar physical and behavioral features such as severe intellectual impairment, lack of language, motor disorders and happy behaviour. Many years later the typical patients' features were identified as linked to genetic abnormalities mainly characterized by neurological symptoms. Life expectancy is good although the symptoms tend to be stable and severe.

Medicine (all)Angelman syndromeUBE3AAngelman syndrome; Behavioural abnormalities; EEG abnormalities; Mental retardation; UBE3A; Medicine (all)Mental retardationEEG abnormalitieBehavioural abnormalitie
researchProduct

Sleep disturbances in Angelman syndrome: a questionnaire study.

2003

Only few studies are available on sleep disorders in Angelman syndrome (AS), a neurodevelopmental disorder with several behavior disturbances. The aim of this study was to determine the prevalence of sleep disorders in a relatively large group of AS subjects, compared to that of age-matched controls. Forty-nine consecutive parents of patients with AS (26 males and 23 females aged 2.3-26.2 years) were interviewed and filled out a comprehensive sleep questionnaire. Based on their genetic etiology, four groups were defined: deletion of chromosome 15q11-13 (25 subjects); methylation imprinting mutation (six subjects), UBE3A mutations (seven subjects) and paternal uniparental disomy (five subjec…

AdultMaleSleep Wake DisordersPediatricsmedicine.medical_specialtyAdolescentUbiquitin-Protein LigasesComorbidityNeurodevelopmental disorderDevelopmental NeuroscienceReference ValuesAngelman syndromeSurveys and QuestionnairesmedicineUBE3APrevalenceHumansWakefulnessPsychiatryChildangelman syndrome; questionnaire study; sleep disordersSleep disorderChromosomes Human Pair 15questionnaire studySleep terrorAge FactorsGeneral MedicineSomnambulismDNA MethylationUniparental Disomymedicine.diseaseSleep in non-human animalsItalyChild PreschoolPediatrics Perinatology and Child HealthMutationsleep disordersFemaleNeurology (clinical)Sleep onsetAngelman SyndromePsychologySleepBraindevelopment
researchProduct

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndr…

2010

Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutations of the E3 ubiquitin protein ligase (UBE3A) gene. However, some of suspected cases of AS are still scored negative to all the latter mutations. Recently, it has been shown that a proportion of negative cases bear large deletions overlapping one or more exons of the UBE3A gene. These deletions are difficult to detect by conventional gene-scanning methods due to the masking effect by the non-delete…

Malecongenital hereditary and neonatal diseases and abnormalitiesClinical Biochemistrygene dosageBiochemistryGene dosageExonSettore BIO/13 - Biologia ApplicataAngelman syndromemedicineUBE3AHumansMultiplexGenetic TestingMultiplex ligation-dependent probe amplificationChildMolecular BiologyGeneticsbiologyubiquitin-protein ligasesgenetic association studiemedicine.diseaseMolecular biologyUniparental disomyUbiquitin ligaseAngelman syndromebiology.proteinMolecular MedicineOriginal ArticleFemaleGene Deletion
researchProduct