Results 251 to 260 of about 163,729 (309)

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Sleep architecture in Alzheimer’s disease continuum: The deep sleep question

Open Life Sciences
Foukarakis Ioannis, Sampatakakis Stefanos N., Mamalaki Eirini, Kyrozis Andreas, Ntanasi Eva, Tsapanou Angeliki, Yannakoulia Mary, Rouskas Konstantinos, Scarmeas Nikolaos   +8 more
doaj   +1 more source

EEG sleep stages identification based on weighted undirected complex networks

Computer Methods and Programs in Biomedicine, 2020
Sleep scoring is important in sleep research because any errors in the scoring of the patient's sleep electroencephalography (EEG) recordings can cause serious problems such as incorrect diagnosis, medication errors, and misinterpretations of patient's ...
Mohammed Diykh, Shahab Abdulla
exaly   +2 more sources

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Chimpanzee sleep stages

Electroencephalography and Clinical Neurophysiology, 1971
The electroencephalogram and electro-oculogram of two unrestrained juvenile chimpanzees was monitored for 7 consecutive nights using telemetry methods. Of the sleeping time, 23% was spent in the rapid eye movement of REM type of sleep, whereas 8, 4, 15, and 10% were spent in non-REM stages 1 through 4, respectively.
F R, Freemon, J J, McNew, W R, Adey
openaire   +2 more sources

Sleep Electroencephalograms and Sleep Stages in Hypoparathyroidism

European Neurology, 2008
2 patients with hypoparathyroidism, one idiopathic and the other pseudoform, were studied by overnight polygraphic recording of the sleep EEG and related activities before and after start of treatment to investigate their sleep EEG patterns and stages, with the results as follows.
Y, Fukuyama, M, Hayashi
openaire   +2 more sources

Sleep in women: Normal values for sleep stages and position and the effect of age, obesity, sleep apnea, smoking, alcohol and hypertension

Sleep Medicine, 2009
OBJECTIVES: To define normal values for total sleep time, sleep latency, sleep efficiency, sleep stages and sleeping positions in women and to investigate how sleep is affected by age, obesity, sleep apnea, smoking, alcohol dependency and hypertension ...
Karl A Franklin, Hans Stenlund, Eva Lindberg   +2 more
exaly   +2 more sources