Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic disorders in which imprinted genes on the proximal long arm of chromosome 15 are affected. Although the SNORD116 gene cluster has become a prime candidate for PWS, it cannot be excluded that other paternally expressed genes in the chromosomal region 15q11q13 contribute to the full phenotype. AS is caused by a d...

In this paper, we describe a 42-year old woman with intellectual disability of unknown origin, epilepsy and treatment resistant neuropsychiatric symptoms, who was bed-ridden for decades until the identification of the underlying genetic syndrome, Angelman syndrome, as well as the recognition of the specific epilepsy syndrome, myoclonic status in non-progressive syndrome, and the initiation of a...

Angelman syndrome is characterized by a partial deficit of paired autosomal chromosome 15, which contains a subunit of the GABA (Gamma-Amino Butyric Acid) receptor. Many drugs that act on the CNS (Central Nerve System) during anesthesia are believed to exert their effects via the GABA receptors. We describe the anesthesia of a 7 year-old female patient with Angelman syndrome who underwent surge...

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction. Currently there is no cure for the disease. Here, we evaluated the phenotypic effect of activating the silenced paternal allele of Ube3a by depleting its antisense RNA Ube3a-AT...

Angelman syndrome is a neurogenetic disorder characterized by intellectual and developmental disability. Common behavioral characteristics of this disorder include a heightened interest in social interactions and frequent bids to initiate interaction. These bids can be problematic, for instance, when a child attempts to hug strangers in public places. The current study evaluated a discriminatio...

1. Mikhael H, Vadivelu N, Braveman F. Safety of spinal anesthesia in a patient with achondroplasia for cesarean section. Curr Drug Saf. 2011;6:130‐1. 2. İnan G, Yayla E, Taş Ü, Arık E, Günaydın Bs. Single Shot Spinal Anaesthesia for Caesarean Delivery of Two Achondroplasic Parturients. Turkish Journal of Anaesthesiology and Reanimation 2015:43.(4): 285‐7. 3. Samra T, Sharma S. Estimation of the...

The mechanisms that promote excitatory synapse formation and maturation have been extensively studied. However, the molecular events that limit excitatory synapse development so that synapses form at the right time and place and in the correct numbers are less well understood. We have identified a RhoA guanine nucleotide exchange factor, Ephexin5, which negatively regulates excitatory synapse d...

1. Chromosome disorders Chromosome disorders are disorders due to abnormalities in structure or number of chromosomes. STRUCTURAL CHROMOSOME ABNORMALITIES Sometimes, chromosomes break, leading to 5 types of changes in chromosome structure 1. Deletion 2. Duplication 3. Inversion 4. Translocation 5. Insertion 1. Deletion: loss of portion of one chromosome. When this chromosome is passed on to off...

These include: References http://jmg.bmjjournals.com/cgi/content/full/39/9/e51#BIBL This article cites 20 articles, 1 of which can be accessed free at: Rapid responses http://jmg.bmjjournals.com/cgi/eletter-submit/39/9/e51 You can respond to this article at: service Email alerting top right corner of the article Receive free email alerts when new articles cite this article sign up in the box at...