angelman syndrome

Summary

Summary: A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

Top Publications

  1. Sahoo T, Peters S, Madduri N, Glaze D, German J, Bird L, et al. Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. J Med Genet. 2006;43:512-6 pubmed
    b>Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, dysmorphic features, ataxia, seizures, and typical behavioural characteristics, including a happy sociable disposition...
  2. Wu M, Chen K, Bressler J, Hou A, Tsai T, Beaudet A. Mouse imprinting defect mutations that model Angelman syndrome. Genesis. 2006;44:12-22 pubmed
    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurobehavioral disorders resulting from deficiency of imprinted gene expression from paternal or maternal chromosome 15q11-15q13, respectively...
  3. Stefan M, Claiborn K, Stasiek E, Chai J, Ohta T, Longnecker R, et al. Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes. BMC Genomics. 2005;6:157 pubmed
    Prader-Willi and Angelman syndrome (PWS and AS) patients typically have an approximately 5 Mb deletion of human chromosome 15q11-q13, of opposite parental origin...
  4. Tsai T, Bressler J, Jiang Y, Beaudet A. Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells. Genesis. 2003;37:151-61 pubmed
    In gene targeting studies of the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) domain in mouse ES cells, we recovered only recombinants with the paternal allele for constructs at exons 2 or 3 of the imprinted, maternally silenced ..
  5. Samaco R, Hogart A, LaSalle J. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet. 2005;14:483-92 pubmed
    ..Rett syndrome, an X-linked dominant disorder caused by MECP2 mutations, and Angelman syndrome, an imprinted disorder caused by maternal 15q11-q13 or UBE3A deficiency, have phenotypic and genetic overlap ..
  6. Clayton Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet. 2003;40:87-95 pubmed
    b>Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition...
  7. Daily J, Nash K, Jinwal U, Golde T, Rogers J, Peters M, et al. Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome. PLoS ONE. 2011;6:e27221 pubmed publisher
    b>Angelman syndrome (AS), a genetic disorder occurring in approximately one in every 15,000 births, is characterized by severe mental retardation, seizures, difficulty speaking and ataxia...
  8. Sinkkonen S, Homanics G, Korpi E. Mouse models of Angelman syndrome, a neurodevelopmental disorder, display different brain regional GABA(A) receptor alterations. Neurosci Lett. 2003;340:205-8 pubmed
    b>Angelman syndrome is a severe neurodevelopmental disorder with cognitive impairment and neurological deficits...
  9. Oliver C, Horsler K, Berg K, Bellamy G, Dick K, Griffiths E. Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?. J Child Psychol Psychiatry. 2007;48:571-9 pubmed
    ..theory is that imbalance in this conflict resulting from a deletion of a maternally imprinted gene, as in Angelman syndrome (AS), will result in a behavioural phenotype that should evidence behaviours that increase access to ..

More Information

Publications62

  1. Jiang Y, Pan Y, Zhu L, Landa L, Yoo J, Spencer C, et al. Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. PLoS ONE. 2010;5:e12278 pubmed publisher
    b>Angelman syndrome (AS) is a neurobehavioral disorder associated with mental retardation, absence of language development, characteristic electroencephalography (EEG) abnormalities and epilepsy, happy disposition, movement or balance ..
  2. Veltman M, Thompson R, Craig E, Dennis N, Roberts S, Moore V, et al. A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study. J Autism Dev Disord. 2005;35:117-27 pubmed
    ..More research is required to determine whether paternally derived duplications that involve 15q11-13 are associated with developmental impairments. ..
  3. Nazlican H, Zeschnigk M, Claussen U, Michel S, Boehringer S, Gillessen Kaesbach G, et al. Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. Hum Mol Genet. 2004;13:2547-55 pubmed
    b>Angelman syndrome is a neurogenetic disorder caused by the loss of function of the imprinted UBE3A gene in 15q11-q13. In a small group of patients, the disease is due to an imprinting defect (ID) that silences the maternal UBE3A allele...
  4. Miura K, Kishino T, Li E, Webber H, Dikkes P, Holmes G, et al. Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice. Neurobiol Dis. 2002;9:149-59 pubmed
    b>Angelman syndrome (AS), characterized by motor dysfunction, mental retardation, and seizures, is caused by several genetic etiologies involving chromosome 15q11-q13, including mutations of the UBE3A gene...
  5. Colas D, Wagstaff J, Fort P, Salvert D, Sarda N. Sleep disturbances in Ube3a maternal-deficient mice modeling Angelman syndrome. Neurobiol Dis. 2005;20:471-8 pubmed
    b>Angelman syndrome (AS) is a severe neurodevelopmental disorder with electroencephalographic (EEG) abnormalities and sleep disturbances...
  6. Margolis S, Salogiannis J, Lipton D, Mandel Brehm C, Wills Z, Mardinly A, et al. EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation. Cell. 2010;143:442-55 pubmed publisher
    ..development and is mediated by Ube3A, a ubiquitin ligase that is mutated in the human cognitive disorder Angelman syndrome and duplicated in some forms of Autism Spectrum Disorders (ASDs)...
  7. Peters S, Kaufmann W, Bacino C, Anderson A, Adapa P, Chu Z, et al. Alterations in white matter pathways in Angelman syndrome. Dev Med Child Neurol. 2011;53:361-7 pubmed publisher
    b>Angelman syndrome is a neurogenetic disorder characterized by severe intellectual disability, absent speech, seizures, and outbursts of laughter...
  8. Gallagher R, Pils B, Albalwi M, Francke U. Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome. Am J Hum Genet. 2002;71:669-78 pubmed
    ..proximal deletion breakpoint of a familial deletion found in an unaffected mother, her three children with Angelman syndrome, and her father...
  9. Kernohan K, Berube N. Genetic and epigenetic dysregulation of imprinted genes in the brain. Epigenomics. 2010;2:743-63 pubmed publisher
    ..Continued efforts in this field will be necessary in order to fully appreciate how the modulation of imprinted gene expression is essential to achieve normal development, and therefore function, of the mammalian nervous system. ..
  10. Camprubí C, Guitart M, Gabau E, Coll M, Villatoro S, Oltra S, et al. Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. Am J Med Genet A. 2009;149A:343-8 pubmed publisher
    b>Angelman syndrome (AS) is a genetic disorder caused by a deficiency of UBE3A imprinted gene expression from the maternal chromosome 15. In 10% of AS cases the genetic cause is a mutation affecting the maternal copy of the UBE3A gene...
  11. Williams C. The behavioral phenotype of the Angelman syndrome. Am J Med Genet C Semin Med Genet. 2010;154C:432-7 pubmed publisher
    The Angelman syndrome is clinically delineated by the combination of seizures, absent speech, hypermotoric and ataxic movements and certain remarkable behaviors...
  12. Valente K. Another Rett patient with a typical Angelman EEG. Epilepsia. 2003;44:873-4; author reply 874 pubmed
  13. Mabb A, Judson M, Zylka M, Philpot B. Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. Trends Neurosci. 2011;34:293-303 pubmed publisher
    b>Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene...
  14. Greer P, Hanayama R, Bloodgood B, Mardinly A, Lipton D, Flavell S, et al. The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell. 2010;140:704-16 pubmed publisher
    b>Angelman Syndrome is a debilitating neurological disorder caused by mutation of the E3 ubiquitin ligase Ube3A, a gene whose mutation has also recently been associated with autism spectrum disorders (ASDs)...
  15. Horsthemke B, Lich C, Buiting K, Achmann R, Aulehla Scholz C, Baumer A, et al. Problems in detecting mosaic DNA methylation in Angelman syndrome. Eur J Hum Genet. 2003;11:913-5 pubmed
  16. Cao C, Rioult Pedotti M, Migani P, Yu C, Tiwari R, Parang K, et al. Impairment of TrkB-PSD-95 signaling in Angelman syndrome. PLoS Biol. 2013;11:e1001478 pubmed publisher
    b>Angelman syndrome (AS) is a neurodevelopment disorder characterized by severe cognitive impairment and a high rate of autism...
  17. Dan B, Cheron G. Postural rhythmic muscle bursting activity in Angelman syndrome. Brain Dev. 2004;26:389-93 pubmed
    Postural impairment is one of the most consistent features of Angelman syndrome. Using multiple-channel electromyography, we studied a lower limb and an upper limb isometric postural task in 14 patients with Angelman syndrome and 18 ..
  18. Stecker M, Myers S. Reserpine responsive myoclonus and hyperpyrexia in a patient with Angelman syndrome. Clin Neurol Neurosurg. 2003;105:183-7 pubmed
    A case of an older patient with the Angelman syndrome due to a deletion at the 15q11-q13 region is presented. The patient demonstrated generalized prolonged myoclonus severe enough to produce temperatures of 41...
  19. Kaphzan H, Buffington S, Jung J, Rasband M, Klann E. Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndrome. J Neurosci. 2011;31:17637-48 pubmed publisher
    ..The neurodevelopmental disorder Angelman syndrome (AS) is usually caused by the deletion of small portions of the maternal copy of chromosome 15, which ..
  20. Chamberlain S, Chen P, Ng K, Bourgois Rocha F, Lemtiri Chlieh F, Levine E, et al. Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Proc Natl Acad Sci U S A. 2010;107:17668-73 pubmed publisher
    b>Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are neurodevelopmental disorders of genomic imprinting...
  21. Depienne C, Moreno De Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, et al. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry. 2009;66:349-59 pubmed publisher
    ..However, the prevalence of these disorders in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13 rearrangements in a large sample of patients ascertained for ASD...
  22. Williams C. Neurological aspects of the Angelman syndrome. Brain Dev. 2005;27:88-94 pubmed
    b>Angelman syndrome (AS) has emerged as an important neurogenetic syndrome due to its relatively high prevalence and easier confirmation of the diagnosis by improved genetic testing...
  23. Wu Y, Bolduc F, Bell K, Tully T, Fang Y, Sehgal A, et al. A Drosophila model for Angelman syndrome. Proc Natl Acad Sci U S A. 2008;105:12399-404 pubmed publisher
    b>Angelman syndrome is a neurological disorder whose symptoms include severe mental retardation, loss of motor coordination, and sleep disturbances...
  24. Forrest K, Young H, Dale R, Gill D. Benefit of corticosteroid therapy in Angelman syndrome. J Child Neurol. 2009;24:952-8 pubmed publisher
    b>Angelman syndrome is often associated with an intractable seizure disorder. We describe 4 children who demonstrated an excellent response to corticosteroid therapy...
  25. Cavaille J, Seitz H, Paulsen M, Ferguson Smith A, Bachellerie J. Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region. Hum Mol Genet. 2002;11:1527-38 pubmed
    ..This link between tandemly repeated C/D snoRNA genes and genomic imprinting suggests a role for these snoRNAs and/or their host non-coding RNA genes in the evolution and/or mechanism of the epigenetic imprinting process. ..
  26. Didden R, Korzilius H, Duker P, Curfs L. Communicative functioning in individuals with Angelman syndrome: a comparative study. Disabil Rehabil. 2004;26:1263-7 pubmed
    To assess expressive communication in individuals with Angelman syndrome. Communicative functioning of individuals with Angelman syndrome (AS) (n = 109) was compared with individuals with mixed etiologies (n = 117) using the Verbal ..
  27. Walz N. Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome. J Autism Dev Disord. 2007;37:940-7 pubmed
    Research examining autistic symptoms in Angelman syndrome (AS) is limited...
  28. Smith E, Futtner C, Chamberlain S, Johnstone K, Resnick J. Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus. PLoS Genet. 2011;7:e1002422 pubmed publisher
    The Prader-Willi syndrome (PWS [MIM 17620]) and Angelman syndrome (AS [MIM 105830]) locus is controlled by a bipartite imprinting center (IC) consisting of the PWS-IC and the AS-IC...
  29. White H, Hall V, Cross N. Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Clin Chem. 2007;53:1960-2 pubmed
    b>Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are 2 distinct neurodevelopmental disorders caused primarily by deficiency of specific parental contributions at an imprinted domain within the chromosomal region 15q11.2-13...
  30. Yamasaki K, Joh K, Ohta T, Masuzaki H, Ishimaru T, Mukai T, et al. Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum Mol Genet. 2003;12:837-47 pubmed
    ..The human UBE3A gene shows brain-specific partial imprinting, and lack of a maternally inherited allele causes Angelman syndrome (AS), which is characterized by neurobehavioral anomalies...
  31. van Bon B, Koolen D, Brueton L, McMullan D, Lichtenbelt K, Ades L, et al. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet. 2010;18:163-70 pubmed publisher
    ..1 microdeletion present with a variable phenotype and the diagnosis should be considered in mentally retarded children with coarse facies, seizures, disturbed sleeping patterns and additional specific behavioural problems. ..
  32. Varela M, Kok F, Otto P, Koiffmann C. Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. Eur J Hum Genet. 2004;12:987-92 pubmed
    b>Angelman syndrome (AS) can result from either a 15q11-q13 deletion (del), paternal uniparental disomy (UPD), imprinting, or UBE3A mutations...
  33. Buiting K, Gross S, Lich C, Gillessen Kaesbach G, El Maarri O, Horsthemke B. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet. 2003;72:571-7 pubmed
    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders that are caused by the loss of function of imprinted genes in 15q11-q13...
  34. Runte M, Kroisel P, Gillessen Kaesbach G, Varon R, Horn D, Cohen M, et al. SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. Hum Genet. 2004;114:553-61 pubmed
    ..expressed - at least in brain cells - from the maternal chromosome only, and affected in patients with Angelman syndrome (AS)...
  35. Kraoua L, Chaabouni M, Ewers E, Chelly I, Ouertani I, Ben Jemaa L, et al. Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report. Eur J Med Genet. 2011;54:e446-50 pubmed publisher
    ..the SMC to be originating from chromosome 15, dicentric and containing four copies of the Prader-Willi/Angelman Syndrome Critical Region (PWACR), including the OCA2 gene. Molecular studies indicated that it is maternally derived...
  36. Buiting K. Prader-Willi syndrome and Angelman syndrome. Am J Med Genet C Semin Med Genet. 2010;154C:365-76 pubmed publisher
    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...
  37. Hogart A, Wu D, LaSalle J, Schanen N. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis. 2010;38:181-91 pubmed publisher
    ..This review provides an overview of the phenotypes of these disorders and their relationships with ASD and outlines the regional genes that may contribute to the autism susceptibility imparted by copy number variation of the region. ..
  38. Cheron G, Servais L, Wagstaff J, Dan B. Fast cerebellar oscillation associated with ataxia in a mouse model of Angelman syndrome. Neuroscience. 2005;130:631-7 pubmed
    Ataxia may result from various cerebellar cortex dysfunctions. It is included in the diagnostic criteria of Angelman syndrome, a human neurogenetic condition...
  39. Sato M, Stryker M. Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a. Proc Natl Acad Sci U S A. 2010;107:5611-6 pubmed publisher
    ..copy of a ubiqutin ligase gene Ube3a can produce a neurodevelopmental defect in human children known as Angelman syndrome. We investigated the role of the maternally expressed Ube3a gene in experience-dependent development and ..
  40. Zogel C, Böhringer S, Gross S, Varon R, Buiting K, Horsthemke B. Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15. Eur J Hum Genet. 2006;14:752-8 pubmed
    ..In the majority of patients with a chromosome 15 imprinting defect (ID) causing Prader-Willi syndrome (PWS) or Angelman syndrome (AS), the defect is a primary epimutation that occurred spontaneously in the absence of a DNA mutation...
  41. Takano K, Lyons M, Moyes C, Jones J, Schwartz C. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Clin Genet. 2010;78:282-8 pubmed publisher
    ..Because of some phenotypical overlap with Angelman syndrome (AS), it has been suggested that PTHS be considered in its differential diagnosis...
  42. Su H, Fan W, Coskun P, Vesa J, Gold J, Jiang Y, et al. Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Neurosci Lett. 2011;487:129-33 pubmed publisher
    b>Angelman syndrome (AS) is a severe neurological disorder caused by a deficiency of ubiquitin protein ligase E3A (UBE3A), but the pathophysiology of the disease remains unknown...
  43. Huang H, Allen J, Mabb A, KING I, Miriyala J, Taylor Blake B, et al. Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature. 2011;481:185-9 pubmed publisher
    b>Angelman syndrome is a severe neurodevelopmental disorder caused by deletion or mutation of the maternal allele of the ubiquitin protein ligase E3A (UBE3A)...
  44. Kantor B, Makedonski K, Green Finberg Y, Shemer R, Razin A. Control elements within the PWS/AS imprinting box and their function in the imprinting process. Hum Mol Genet. 2004;13:751-62 pubmed
    ..Although minideletions in this region in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) patients revealed that two elements, shortest deletion regions of ..
  45. Yashiro K, Riday T, Condon K, Roberts A, Bernardo D, Prakash R, et al. Ube3a is required for experience-dependent maturation of the neocortex. Nat Neurosci. 2009;12:777-83 pubmed publisher
    ..modifications require Ube3a, an E3 ubiquitin ligase whose dysregulation has been implicated in autism and Angelman syndrome. Using visual cortex as a model, we found that experience-dependent maturation of excitatory cortical ..
  46. Steinkellner T, Yang J, Montgomery T, Chen W, Winkler M, Sucic S, et al. Ca(2+)/calmodulin-dependent protein kinase II? (?CaMKII) controls the activity of the dopamine transporter: implications for Angelman syndrome. J Biol Chem. 2012;287:29627-35 pubmed publisher
    ..Additionally, we investigated mice that mimic a neurogenetic disease known as Angelman syndrome. These mice possess reduced ?CaMKII activity...
  47. Gustin R, Bichell T, Bubser M, Daily J, Filonova I, Mrelashvili D, et al. Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome. Neurobiol Dis. 2010;39:283-91 pubmed publisher
    b>Angelman syndrome (AS) is a neurogenetic disorder caused by loss of maternal UBE3A expression or mutation-induced dysfunction of its protein product, the E3 ubiquitin-protein ligase, UBE3A...
  48. Makedonski K, Abuhatzira L, Kaufman Y, Razin A, Shemer R. MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. Hum Mol Genet. 2005;14:1049-58 pubmed
    ..RS shares clinical features with those of Angelman syndrome (AS), an imprinting neurodevelopmental disorder...
  49. Camprubí C, Coll M, Villatoro S, Gabau E, Kamli A, Martínez M, et al. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes. Eur J Med Genet. 2007;50:11-20 pubmed
    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic disorders caused by a deficiency of imprinted gene expression from the paternal or maternal chromosome 15, respectively...
  50. Sathanoori M, Hu J, Murthy V, Byrnes A, Vockley J, Safier R, et al. Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events. Am J Med Genet A. 2007;143A:985-94 pubmed
    Simultaneous occurrence of two unrelated cytogenetic events is rare. We present a case of Angelman Syndrome (AS) deletion and 12q duplication in a child with a history of developmental delay, microcephaly, cerebral palsy, and seizures...
  51. Gilfillan G, Selmer K, Roxrud I, Smith R, Kyllerman M, Eiklid K, et al. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet. 2008;82:1003-10 pubmed publisher
    ..XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6...
  52. Vendrame M, Loddenkemper T, Zarowski M, Gregas M, Shuhaiber H, Sarco D, et al. Analysis of EEG patterns and genotypes in patients with Angelman syndrome. Epilepsy Behav. 2012;23:261-5 pubmed publisher
    We prospectively analyzed EEGs from participants in the ongoing NIH Rare Diseases Clinical Research Network Angelman Syndrome Natural History Study...
  53. Heck D, Zhao Y, Roy S, Ledoux M, Reiter L. Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors. Hum Mol Genet. 2008;17:2181-9 pubmed publisher
    b>Angelman syndrome (AS) is a childhood-onset neurogenetic disorder characterized by functionally severe developmental delay with mental retardation, deficits in expressive language, ataxia, appendicular action tremors and unique behaviors ..