Meet the girl who sleeps for just 90 minutes each night

Ever Hisko, from Renfrew, Ontario, was only recently diagnosed with Angelman syndrome - which has no cure. Not only does it affect her sleeping, but it also means she is unable to speak.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing. Mol Med Rep. 2020 Jun 03;: Authors: Li FX, Xie MJ, Qu SF, He D, Wu L, Liang ZK, Wu YS, Yang F, Yang XX Abstract Chromosomal abnormalities (CAs) can cause spontaneous miscarriage and increase the incidence of subsequent pregnancy loss and other complications. Presently, CAs are detected mainly by array comparative genomic hybridization (CGH) and single nucleotide polymorphism microarrays. The present study developed a low‑coverage next‑generation sequencing method to detect CAs in sponta...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Condition:   Angelman Syndrome Intervention:   Drug: RO7248824 Sponsor:   Hoffmann-La Roche Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
We present a patient with childhood idiopathic generalised epilepsy (IGE) who later developed HSP. She rapidly deteriorated 27  years later with clinically definite amyotrophic lateral sclerosis (ALS). Her family history included HSP, IGE and motor neurone disease. Genetic testing identified a pathogenic variant in theNIPA1 gene associated with spastic paraplegia 6 (SPG6). This case provides the first description ofNIPA1 in a family with epilepsy, ALS and thus complex HSP.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
ConclusionsOur findings suggest that the CSBS-ITC communicates different information about the reliability of stability versus change, in low-risk control and NGS samples, respectively, and that psychometric approaches like Generalizability Theory can provide more complete information about the reliability of existing measures and inform decisions about how measures are used in research on early development in NGS.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
CONCLUSIONS: This integrated quantitative MR imaging analysis demonstrated poor functional and structural connectivity, as well as brain volume reduction, in children with AS, which may explain the motor and language dysfunction observed in this well-characterized neurobehavioral phenotype.
Source: American Journal of Neuroradiology - Category: Radiology Authors: Tags: FUNCTIONAL Source Type: research
Journal of Clinical Sleep Medicine,Volume 16, Issue 4, Page 591-595, April 2020.
Source: Journal of Clinical Sleep Medicine : JCSM - Category: Sleep Medicine Authors: Source Type: research
Angelman syndrome (AS) is a neurodegenerative disorder caused by functional loss of the maternal ubiquitin-protein ligase 3A gene. Nonepileptic myoclonus, also described as tremulous movement, often occurs during puberty and increases in adulthood. The involuntary movement in AS has not been defined patho-physiologically and the drugs used such as levetiracetam and piracetam are not always effective. Recently, the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptor antagonist, perampanel (PER), was used to alleviate myoclonus in progressive myoclonus epilepsy.
Source: Brain and Development - Category: Neurology Authors: Tags: Original article Source Type: research
European Journal of Human Genetics, Published online: 09 March 2020; doi:10.1038/s41431-020-0595-yCommon genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15
Source: European Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
Publication date: Available online 21 February 2020Source: NeuroscienceAuthor(s): Diana C. Rotaru, Edwin J. Mientjes, Ype ElgersmaAbstractThe UBE3A gene is part of the chromosome 15q11-q13 region that is frequently deleted or duplicated, leading to several neurodevelopmental disorders. Angelman syndrome (AS) is caused by the absence of functional maternally derived UBE3A protein, while the paternal UBE3A gene is present but silenced specifically in neurons. Patients with AS present with severe neurodevelopmental delay, with pronounced motor deficits, absence of speech, intellectual disability, epilepsy, and sleep problems....
Source: Neuroscience - Category: Neuroscience Source Type: research
Publication date: Available online 19 February 2020Source: NeuroscienceAuthor(s): Vishnu Shandilya M C, Akash GautamAbstractActivity-regulated cytoskeleton-associated (Arc) gene is one of the effector neuronal immediate early genes (IEG) that is rapidly upregulated after neuronal activation and is involved in synaptic long-term potentiation and depression. In recent years, it has been implicated in several cognitive disorders, viz. Angelman syndrome, Alzheimer’s disease, fragile-X syndrome, etc. It undergoes quick transcription and highly regulated translation after exposure to a novel environment. Previous studies h...
Source: Neuroscience - Category: Neuroscience Source Type: research
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