Search results for "Somnambulism"

showing 2 items of 2 documents

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
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Increased sensitivity of the neuronal nicotinic receptor alpha-2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

2006

Sleep has traditionally been recognized as a precipitating factor for some forms of epilepsy, although differential diagnosis between some seizure types and parasomnias may be difficult. Autosomal dominant frontal lobe epilepsy is characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements and has been associated with mutations of the α4 and β2 subunits of the neuronal nicotinic acetylcholine receptor. We performed a clinical and molecular genetic study of a large pedigree segregating sleep-related epilepsy in which seizures are associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep …

AdultMalemedicine.medical_specialtyAdolescentSomnambulismMolecular Sequence DataMutation MissenseAutosomal dominant nocturnal frontal lobe epilepsyReceptors NicotinicBiologymedicine.disease_causeLigandsNicotinicArticleEpilepsyBIO/09 - FISIOLOGIAInternal medicineAcetylcholine; Adolescent; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Epilepsy; Female; Humans; Ligands; Male; Molecular Sequence Data; Mutation Missense; Neurons; Pedigree; Receptors Nicotinic; Somnambulism; FearReceptorsmedicine80 and overGeneticsHumansIctalGenetics(clinical)Amino Acid SequenceGenetics (clinical)Acetylcholine receptorAgedAged 80 and overNeuronsMutationEpilepsySeizure typesFearmedicine.diseaseAcetylcholinePedigreeNicotinic acetylcholine receptorNicotinic agonistEndocrinologyMutationnAChR patch-clamp ADNFLE sleep-related epilepsy M1 TM1 ACh nicotineSettore MED/26 - NeurologiaFemaleMissense
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