LEADER 04820nam 2200577 a 450 001 9910813557103321 005 20230721020557.0 010 $a1-898683-83-2 035 $a(CKB)2550000000084777 035 $a(EBL)1667668 035 $a(SSID)ssj0000598542 035 $a(PQKBManifestationID)12270778 035 $a(PQKBTitleCode)TC0000598542 035 $a(PQKBWorkID)10592008 035 $a(PQKB)11539475 035 $a(MiAaPQ)EBC3329142 035 $a(Au-PeEL)EBL3329142 035 $a(CaPaEBR)ebr10313242 035 $a(OCoLC)929120182 035 $a(EXLCZ)992550000000084777 100 $a20130815d2008 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aAngelman syndrome$b[electronic resource] /$fBernard Dan 210 $aLondon $cMac Keith Press$d2008 215 $a1 online resource (192 p.) 225 0$aClinics in developmental medicine ;$vno. 177 300 $aDescription based upon print version of record. 311 $a1-898683-55-7 320 $aIncludes bibliographical references and index. 327 $aCONTENTS; AUTHORS' APPOINTMENTS; FOREWORD; 1 DR ANGELMAN'S SYNDROME Bernard Dan; Original report of Angelman syndrome; Dr Harry Angelman (Fig. 1.2); From puppet children to Angelman syndrome; Illustrations and derivations; From patient descriptions to diagnostic criteria; Angelman syndrome as a model; Conclusion; 2 NATURAL HISTORY Karine Pelc and Bernard Dan; Antenatal and perinatal period; Neonatal period; Infancy; Childhood; Adolescence; Adulthood; Conclusion; 3 A PERSONAL ACCOUNT Patrick Haverbeke; How an angel changed our life; Early problems with integration 327 $aOptions for Henri's educationThe road to diagnosis; Tools for communication; The difficult choice: putting Henri in a residential institution; Reorganising our family life; Time is passing: Henri becomes an adult; Henri, ambassador across the world; 4 MEDICAL GENETICS Bernard Dan; Chromosome 15q11-q13 deletion; Uniparental disomy; UBE3A mutation; Imprinting defect; Chromosomal aberration; Other identified genetic abnormalities; Genetic testing; Genetic counselling; Prenatal diagnosis; Risks associated with in vitro fertilisation; Conclusion; 5 MOLECULAR BIOLOGY Bernard Dan; Genomic imprinting 327 $aGenomic imprintingUBE3A gene expression; Ubiquitination; UBE3A gene expression; Ubiquitination; An integrative hypothesis; An integrative hypothesis; Possible targets for management; Possible targets for management; Conclusion; Conclusion; 6 DIFFERENTIAL DIAGNOSIS Bernard Dan; Cerebral palsy; Autistic spectrum; Lennox-Gastaut syndrome; Rett syndrome; Untreated phenylketonuria; Methylenetetrahydrofolate reductase deficiency; ATR-X syndrome; Gurrieri syndrome; Mowat-Wilson syndrome; Chromosomal abnormalities; Mosaic imprinting defects of 15q11-q13; Prader-Willi syndrome 327 $aInverted duplication of chromosome 15Conclusion; 7 BEHAVIOUR Bernard Dan; Happy disposition; Hyperactivity and impulsivity; Stereotypic behaviours; Autistic features; Social interaction; Behavioural adaptability; Interest profile; Oral behaviours; Conclusion; 8 PERCEPTION AND COGNITION Bernard Dan; Visual perception; Auditory and language perception; Somatosensory perception; Pain; Other perceptual modalities; Attention; 'Mental age'; Memory; Emotion; Conclusion; 9 COMMUNICATION Bernard Dan; General context of communication; Receptive verbal language; Expressive verbal language 327 $aExpressive non-verbal languageConclusion; 10 MOVEMENT AND POSTURAL CONTROL Bernard Dan and Guy Cheron; Alternative vs immature motor development; Early motor development; Later motor development; Motor signs; Balance; Oromotor function; Hand function; Walking; Other movements; Tremor vs myoclonus; Pathophysiology; Physical management; Pharmacological management; Conclusion; 11 EPILEPSY Bernard Dan and Stewart G. Boyd; Natural history of the seizure disorder; Seizure types; Epileptic syndrome; Convulsive status epilepticus; Non-convulsive status epilepticus; Management; Conclusion 327 $a12 SLEEP Bernard Dan and Stewart G. Boyd 330 $a A comprehensive review of clinical and genetic issues, natural history, possible pathophysiological pathways, specific clinical problems (motor impairment, behaviour, learning difficulties, communication, sleep, epilepsy), clinical neurophysiology, neuropathology, rehabilitation and basic research in the field of Angelman syndrome. 410 0$a1st 606 $aAngelman syndrome 615 0$aAngelman syndrome. 700 $aDan$b Bernard$01677711 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910813557103321 996 $aAngelman syndrome$94044805 997 $aUNINA