{"product_id":"angelman-syndrome-paperback-softback-9781898683551","title":"Angelman Syndrome (Paperback \/ softback) 9781898683551","description":"\u003cfont face=\"Georgia\"\u003e\r\n\u003cp\u003e\u003cfont size=\"6\"\u003eAngelman Syndrome\u003c\/font\u003e\u003cbr\u003e\r\n\r\n\r\n\r\n\r\n\r\n\u003c\/p\u003e\n\u003cp\u003e\u003cfont size=\"4\"\u003eBernard Dan (Author)\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e9781898683551, Wiley\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003ePaperback \/ softback, published 27 June 2008\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e256 pages\u003cbr\u003e23.6 x 16.5 x 1.3 cm, 0.34 kg\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\r\n\r\n\r\n\r\n\u003cp align=\"justify\"\u003e\u003cstrong\u003e\u003cfont size=\"3\"\u003e\u003cb\u003eClinics in Developmental Medicine No. 177\u003c\/b\u003e  \u003cp\u003e This book provides a comprehensive review of clinical and genetic issues, natural history, possible pathophysiological pathways, specific clinical problems (motor impairment, behaviour, learning difficulties, communication, sleep, epilepsy), clinical neurophysiology, neuropathology, rehabilitation and basic research in the field of Angelman syndrome. This condition is a neurogenetic disorder characterised by developmental delay, absence of speech, motor impairment, epilepsy and a peculiar behavioural phenotype. It is caused by the lack of expression of the UBE3A gene associated with various abnormalities of chromosome 15q11-13.\u003c\/p\u003e  \u003cp\u003e Angelman syndrome appears to be distributed equally worldwide. Precise diagnosis carries clinical and genetic counselling implications. However, many clinicians still seem unfamiliar with this condition despite the severity and typical aspects of presentation. Beyond individual situations, Angelman syndrome can serve as a disease model opening broad questioning of genetic and epigenetic influences in neurology, as well as of several concepts such as psychomotor development, cerebral palsy, behavioural phenotypes and epileptic syndromes.\u003c\/p\u003e  \u003cp\u003e Recent advances in molecular biology and animal models of the syndrome have provided new data which can improve our understanding of Angelman syndrome and open the way to more specific management.\u003c\/p\u003e\u003c\/font\u003e\u003c\/strong\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e1. Doctor Angelman’s syndrome;. \u003cp\u003e2. Natural history.\u003c\/p\u003e \u003cp\u003e3. A personal account.\u003c\/p\u003e \u003cp\u003e4. Medical genetics;.\u003c\/p\u003e \u003cp\u003e5. Molecular biology;.\u003c\/p\u003e \u003cp\u003e6. Differential diagnosis;.\u003c\/p\u003e \u003cp\u003e7. Behaviour;.\u003c\/p\u003e \u003cp\u003e8. Perception and cognition;.\u003c\/p\u003e \u003cp\u003e9. Communication;.\u003c\/p\u003e \u003cp\u003e10. Movement and postural control;.\u003c\/p\u003e \u003cp\u003e11. Epilepsy;.\u003c\/p\u003e \u003cp\u003e12. Sleep;.\u003c\/p\u003e \u003cp\u003e13. Clinical neurophysiology;.\u003c\/p\u003e \u003cp\u003e14. Neuroimaging and neuropathology;.\u003c\/p\u003e \u003cp\u003e15. Animal models;.\u003c\/p\u003e \u003cp\u003e16. Perspectives;.\u003c\/p\u003e \u003cp\u003e17. Resources. References\u003c\/p\u003e\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003eSubject Areas: Clinical \u0026amp; internal medicine [\u003ca title=\"See our other books on Clinical \u0026amp; internal medicine\" href=\"https:\/\/freshlyprintedbooks.co.uk\/search?q=%22Clinical%20\u0026amp;%20internal%20medicine%20%5BMJ%5D%22\"\u003eMJ\u003c\/a\u003e]\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\r\n\u003c\/font\u003e","brand":"Mac Keith Press","offers":[{"title":"Brand New","offer_id":52511197102360,"sku":"9781898683551","price":58.59,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0730\/2037\/5320\/files\/9781898683551.jpg?v=1786589869","url":"https:\/\/freshlyprintedbooks.co.uk\/products\/angelman-syndrome-paperback-softback-9781898683551","provider":"Freshly Printed Books","version":"1.0","type":"link"}