Research & Literature

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.

Angulo MA, Butler MG, Cataletto ME

Journal of endocrinological investigation 2015; (38(12)):1249-63 doi:10.1007/s40618-015-0312-9.

Angelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report.

Ranasinghe JC, Chandradasa D, Fernando S, et al.

Journal of medical case reports 2015; (9()):142 doi:10.1186/s13256-015-0622-8.

Maternal Ube3a Loss Disrupts Sleep Homeostasis But Leaves Circadian Rhythmicity Largely Intact.

Ehlen JC, Jones KA, Pinckney L, et al.

The Journal of neuroscience : the official journal of the Society for Neuroscience 2015; (35(40)):13587-98 doi:10.1523/JNEUROSCI.2194-15.2015.

An Evidence-Based Approach to the Treatment of Gastroesophageal Reflux Disease.

Patti MG

JAMA surgery 2016; (151(1)):73-8 doi:10.1001/jamasurg.2015.4233.

Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital.

Shaaya EA, Grocott OR, Laing O, Thibert RL

Epilepsy & behavior : E&B 2016; (60()):138-141 doi:10.1016/j.yebeh.2016.04.030.

The Impact of Anti-Epileptic Drugs on Growth and Bone Metabolism.

Fan HC, Lee HS, Chang KP, et al.

International journal of molecular sciences 2016; (17(8)).

Angelman syndrome - insights into a rare neurogenetic disorder.

Buiting K, Williams C, Horsthemke B

Nature reviews. Neurology 2016; (12(10)):584-93 doi:10.1038/nrneurol.2016.133.

Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge.

Marangi G, Zollino M

Journal of pediatric genetics 2015; (4(3)):168-76 doi:10.1055/s-0035-1564570.

Augmentative and alternative communication intervention for persons with severe aphasia.

Doyle M, DeRuyter F

Topics in stroke rehabilitation 1995; (2(1)):29-39 doi:10.1080/10749357.1995.11754052.

Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient.

Micheletti S, Palestra F, Martelli P, et al.

Italian journal of pediatrics 2016; (42(1)):91 doi:10.1186/s13052-016-0301-4.

Low glycemic index treatment for seizure control in Angelman syndrome: A case series from the Center for Dietary Therapy of Epilepsy at the Massachusetts General Hospital.

Grocott OR, Herrington KS, Pfeifer HH, et al.

Epilepsy & behavior : E&B 2017; (68()):45-50 doi:10.1016/j.yebeh.2016.12.018.

Quality in dual-energy X-ray absorptiometry scans.

Morgan SL, Prater GL

Bone 2017; (104()):13-28 doi:10.1016/j.bone.2017.01.033.

Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.

Le Fevre A, Beygo J, Silveira C, et al.

American journal of medical genetics. Part A 2017; (173(3)):753-757 doi:10.1002/ajmg.a.38072.

Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells.

Fink JJ, Robinson TM, Germain ND, et al.

Nature communications 2017; (8()):15038 doi:10.1038/ncomms15038.

Prevalence of gastrointestinal symptoms in Angelman syndrome.

Glassman LW, Grocott OR, Kunz PA, et al.

American journal of medical genetics. Part A 2017; (173(10)):2703-2709 doi:10.1002/ajmg.a.38401.

Sleep in children with Angelman syndrome: Parental concerns and priorities.

Trickett J, Heald M, Oliver C

Research in developmental disabilities 2017; (69()):105-115 doi:10.1016/j.ridd.2017.07.017.

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.

Aguilera C, Viñas-Jornet M, Baena N, et al.

BMC medical genetics 2017; (18(1)):137 doi:10.1186/s12881-017-0500-x.

Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases.

Prasad A, Grocott O, Parkin K, et al.

American journal of medical genetics. Part A 2018; (176(6)):1327-1334 doi:10.1002/ajmg.a.38694.

Movement Disorders and Syndromic Autism: A Systematic Review.

Bell L, Wittkowski A, Hare DJ

Journal of autism and developmental disorders 2019; (49(1)):54-67 doi:10.1007/s10803-018-3658-y.

Systematic Review of Interventions Involving Aided AAC Modeling for Children With Complex Communication Needs.

Biggs EE, Carter EW, Gilson CB

American journal on intellectual and developmental disabilities 2018; (123(5)):443-473 doi:10.1352/1944-7558-123.5.443.

A bipartite boundary element restricts UBE3A imprinting to mature neurons.

Hsiao JS, Germain ND, Wilderman A, et al.

Proceedings of the National Academy of Sciences of the United States of America 2019; (116(6)):2181-2186 doi:10.1073/pnas.1815279116.

Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China.

Liu C, Zhang X, Wang J, et al.

Molecular cytogenetics 2019; (12()):7 doi:10.1186/s13039-019-0420-x.

Communication in Angelman syndrome: a scoping review.

Pearson E, Wilde L, Heald M, et al.

Developmental medicine and child neurology 2019; (61(11)):1266-1274 doi:10.1111/dmcn.14257.

Comparative Effects of High-Tech Visual Scene Displays and Low-Tech Isolated Picture Symbols on Engagement From Students With Multiple Disabilities.

Holyfield C, Brooks S, Schluterman A

Language, speech, and hearing services in schools 2019; (50(4)):693-702 doi:10.1044/2019_LSHSS-19-0007.

Prenatal treatment path for angelman syndrome and other neurodevelopmental disorders.

Zylka MJ

Autism research : official journal of the International Society for Autism Research 2020; (13(1)):11-17 doi:10.1002/aur.2203.

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.

Han J, Bichell TJ, Golden S, et al.

Orphanet journal of rare diseases 2019; (14(1)):232 doi:10.1186/s13023-019-1216-0.

Adverse Events Associated with Melatonin for the Treatment of Primary or Secondary Sleep Disorders: A Systematic Review.

Besag FMC, Vasey MJ, Lao KSJ, Wong ICK

CNS drugs 2019; (33(12)):1167-1186 doi:10.1007/s40263-019-00680-w.

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.

Bindels-de Heus KGCB, Mous SE, Ten Hooven-Radstaake M, et al.

American journal of medical genetics. Part A 2020; (182(1)):53-63 doi:10.1002/ajmg.a.61382.

Profiles of atypical sensory processing in Angelman, Cornelia de Lange and Fragile X syndromes.

Heald M, Adams D, Oliver C

Journal of intellectual disability research : JIDR 2020; (64(2)):117-130 doi:10.1111/jir.12702.

Mirtazapine for sleep disturbances in Angelman syndrome: a retrospective chart review of 8 pediatric cases.

Hanzlik E, Klinger SA, Carson R, Duis J

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2020; (16(4)):591-595 doi:10.5664/jcsm.8284.

Characterizing spine issues: If offers novel therapeutics to Angelman syndrome.

Yang X

Developmental neurobiology 2020; (80(5-6)):200-209 doi:10.1002/dneu.22757.

Direct Administration and Gene Modulation Using Antisense Oligonucleotides Within the CNS.

Wahlestedt C, Khorkova O

Cellular and molecular neurobiology 2021; (41(5)):849-853 doi:10.1007/s10571-020-00919-x.

Iron Deficiency and Its Role in Sleep Disruption in Patients With Angelman Syndrome.

Ryan CS, Edlund W, Mandrekar J, et al.

Journal of child neurology 2020; (35(14)):963-969 doi:10.1177/0883073820941755.

Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment.

Keute M, Miller MT, Krishnan ML, et al.

Molecular psychiatry 2021; (26(7)):3625-3633 doi:10.1038/s41380-020-0858-6.

Angelman syndrome and melatonin: What can they teach us about sleep regulation.

Buonfiglio D, Hummer DL, Armstrong A, et al.

Journal of pineal research 2020; (69(4)):e12697 doi:10.1111/jpi.12697.

Variance in the pathophysiological impact of the hemizygosity of gamma-aminobutyric acid type A receptor subunit genes between Prader-Willi syndrome and Angelman syndrome.

Egawa K, Saitoh S, Asahina N, Shiraishi H

Brain & development 2021; (43(4)):521-527 doi:10.1016/j.braindev.2020.12.014.

The Assessment and Treatment of Sleep Abnormalities in Children and Adolescents with Autism Spectrum Disorder: A Review.

Rana M, Kothare S, DeBassio W

Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescent 2021; (30(1)):25-35.

Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.

Ueda K, Ogawa S, Matsuda K, et al.

American journal of medical genetics. Part A 2021; (185(10)):3092-3098 doi:10.1002/ajmg.a.62371.

Therapies in preclinical and clinical development for Angelman syndrome.

Markati T, Duis J, Servais L

Expert opinion on investigational drugs 2021; (30(7)):709-720 doi:10.1080/13543784.2021.1939674.

Genotype-Phenotype Correlations in Angelman Syndrome.

Yang L, Shu X, Mao S, et al.

Genes 2021; (12(7)) doi:10.3390/genes12070987.

Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model.

Milazzo C, Mientjes EJ, Wallaard I, et al.

JCI insight 2021; (6(15)).

Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.

Kim B, Park Y, Cho SI, et al.

Annals of laboratory medicine 2022; (42(1)):79-88 doi:10.3343/alm.2022.42.1.79.

A Comprehensive Approach to Rehabilitation Interventions in Patients with Angelman Syndrome: A Systematic Review of the Literature.

Sommese M, Corrado B

Neurology international 2021; (13(3)):359-370 doi:10.3390/neurolint13030036.

Neuropathology in the North American sudden unexpected death in epilepsy registry.

Leitner DF, Faustin A, Verducci C, et al.

Brain communications 2021; (3(3)):fcab192 doi:10.1093/braincomms/fcab192.

The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report.

Triono A, Iskandar K, Nugrahanto AP, et al.

Annals of medicine and surgery (2012) 2022; (73()):103170 doi:10.1016/j.amsu.2021.103170.

Evaluation of electroencephalography biomarkers for Angelman syndrome during overnight sleep.

Levin Y, Hosamane NS, McNair TE, et al.

Autism research : official journal of the International Society for Autism Research 2022; (15(6)):1031-1042 doi:10.1002/aur.2709.

Stimulant intolerance in children with Angelman syndrome with hyperactivity: a case series.

Keary CJ, Thom RP, McDougle CJ

Psychiatric genetics 2022; (32(2)):80-86 doi:10.1097/YPG.0000000000000307.

Circadian Rhythms and Sleep Are Dependent Upon Expression Levels of Key Ubiquitin Ligase Ube3a.

Shi SQ, Mahoney CE, Houdek P, et al.

Frontiers in behavioral neuroscience 2022; (16()):837523 doi:10.3389/fnbeh.2022.837523.

Longitudinal EEG model detects antisense oligonucleotide treatment effect and increased UBE3A in Angelman syndrome.

Spencer ER, Shi W, Komorowski RW, et al.

Brain communications 2022; (4(3)):fcac106 doi:10.1093/braincomms/fcac106.

Two siblings suffering from Angelman Syndrome with a novel c.1146T>G mutation in UBE3A: A case report.

Liu C, Liu RH, Sun GF, et al.

Biomedical reports 2022; (16(6)):48 doi:10.3892/br.2022.1531.

Improvement in Gait and Participation in a Child with Angelman Syndrome after Translingual Neurostimulation Associated with Goal-Oriented Therapy: A Case Report.

Gaudin-Drouelle D, Houx L, Lempereur M, et al.

Children (Basel, Switzerland) 2022; (9(5)) doi:10.3390/children9050719.

Direct assessment of overnight parent-child proximity in children with behavioral insomnia: Extending models of operant and classical conditioning.

Agar G, Oliver C, Richards C

Behavioral sleep medicine 2023; (21(3)):254-272 doi:10.1080/15402002.2022.2076681.

Therapeutic approach to neurological manifestations of Angelman syndrome.

Ascoli M, Elia M, Gasparini S, et al.

Expert review of clinical pharmacology 2022; (15(7)):843-850 doi:10.1080/17512433.2022.2109463.

Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism.

Punatar R, Egense A, Mao R, et al.

Molecular genetics & genomic medicine 2022; (10(10)):e2018 doi:10.1002/mgg3.2018.

An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.

Du X, Wang J, Li S, et al.

Genes 2022; (13(8)) doi:10.3390/genes13081447.

Association between early and current gastro-intestinal symptoms and co-morbidities in children and adolescents with Angelman syndrome.

Leader G, Whelan S, Chonaill NN, et al.

Journal of intellectual disability research : JIDR 2022; (66(11)):865-879 doi:10.1111/jir.12975.

R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report.

Bouzroud W, Tazzite A, Berrada S, et al.

Clinical pathology (Thousand Oaks, Ventura County, Calif.) 2022; (15()):2632010X221124269 doi:10.1177/2632010X221124269.

Telehealth Training in Naturalistic Communication Intervention for Mothers of Children with Angelman Syndrome.

Rispoli M, Shannon E, Voorhis C, et al.

Advances in neurodevelopmental disorders 2022; (6(4)):549-566 doi:10.1007/s41252-022-00284-4.

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing.

Yamada M, Okuno H, Okamoto N, et al.

European journal of medical genetics 2023; (66(2)):104690 doi:10.1016/j.ejmg.2022.104690.

Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome.

Lee D, Chen W, Kaku HN, et al.

eLife 2023; (12()).

UBE3A expression during early postnatal brain development is required for proper dorsomedial striatal maturation.

Rotaru DC, Wallaard I, de Vries M, et al.

JCI insight 2023; (8(4)).

An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript.

Dindot SV, Christian S, Murphy WJ, et al.

Science translational medicine 2023; (15(688)):eabf4077 doi:10.1126/scitranslmed.abf4077.

[Angelman syndrome in adulthood].

Lorenzo-Ruiz M, Novo-Ponte S, Iglesias-Escalera G, et al.

Revista de neurologia 2023; (76(7)):217-226 doi:10.33588/rn.7607.2022235.

Exploring Communication Ability in Individuals With Angelman Syndrome: Findings From Qualitative Interviews With Caregivers.

Zigler CK, Lucas N, McFatrich M, et al.

American journal on intellectual and developmental disabilities 2023; (128(3)):185-203 doi:10.1352/1944-7558-128.3.185.

A Case Study of Early Diagnosed Angelman Syndrome: Recognizing Atypical Clinical Presentations.

Dang H, Srinivasa S, Lee SY, Alprin C

Cureus 2023; (15(5)):e39271 doi:10.7759/cureus.39271.

Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition.

Gwaltney A, Potter SN, Peters SU, et al.

Journal of autism and developmental disorders 2024; (54(10)):3863-3887 doi:10.1007/s10803-023-06090-8.

Current and emerging treatment options for Angelman syndrome.

Keary CJ, McDougle CJ

Expert review of neurotherapeutics 2023; (23(9)):835-844 doi:10.1080/14737175.2023.2245568.

Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt-Hopkins syndrome: a retrospective study.

Zhao T, Wu S, Shen Y, et al.

Orphanet journal of rare diseases 2024; (19(1)):51 doi:10.1186/s13023-024-03055-7.

Factors associated with sleep disturbances in children and adolescents with Angelman Syndrome.

Leader G, Killeen C, Whelan S, et al.

Sleep medicine 2024; (117()):9-17 doi:10.1016/j.sleep.2024.02.038.

Melatonin Use in Pediatrics: A Clinical Review on Indications, Multisystem Effects, and Toxicity.

Shenoy P, Etcheverry A, Ia J, et al.

Children (Basel, Switzerland) 2024; (11(3)) doi:10.3390/children11030323.

Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype-Genotype Correlation in 97 Patients with Motor Developmental Delay.

Belghiti HD, Abbassi M, Sayel H, et al.

Journal of pediatric genetics 2024; (13(1)):15-21 doi:10.1055/s-0042-1751268.

Association Between Challenging Behaviour and Sleep Problems in Adults Enrolled in the Global Angelman Syndrome Registry.

Coleman H, Mannion A, Whelan S, et al.

Journal of autism and developmental disorders 2025; (55(8)):2938-2949 doi:10.1007/s10803-024-06367-6.

Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry.

Carriero PL, Zangari R, Sfreddo E, et al.

Journal of clinical medicine 2024; (13(12)) doi:10.3390/jcm13123520.

Evidence-Based Clinical Guidelines for Chronic Constipation 2023.

Ihara E, Manabe N, Ohkubo H, et al.

Digestion 2025; (106(1)):62-89 doi:10.1159/000540912.

Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study.

Suleja A, Milska-Musa K, Przysło Ł, et al.

Orphanet journal of rare diseases 2024; (19(1)):306 doi:10.1186/s13023-024-03292-w.

Perceived Impact of Sensory Integration Therapy on the Family.

Piller A, Osborne B, McHugh Conlin J

OTJR : occupation, participation and health 2025; (45(4)):519-526 doi:10.1177/15394492241280039.

[Angelman syndrome: current approach and the future of therapies].

Sell E, Heymans J

Medicina 2024; (84 Suppl 3()):15-20.

[Epilepsy in Angelman syndrome and the most common electroencephalographic findings].

Ebrat-Mancilla E, Sánchez-Aparicio A, Pérez de Vargas-Martínez A, et al.

Revista de neurologia 2024; (79(8)):223-228 doi:10.33588/rn.7908.2024233.

Exploring core competencies for language facilitation in parent training programs in AAC.

Soto G, Vega J

Disability and rehabilitation. Assistive technology 2025; (20(4)):1035-1043 doi:10.1080/17483107.2024.2429687.

Parental expectations and perceptions of augmentative and alternative communication: A Sri Lankan perspective.

Hettiarachchi S, Nizar S, Kitnasamy G, Gopi D

Autism : the international journal of research and practice 2025; (29(5)):1157-1170 doi:10.1177/13623613241298061.

Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979-2022).

Gomes AT, Moore A, Cross M, et al.

American journal of medical genetics. Part A 2025; (197(4)):e63961 doi:10.1002/ajmg.a.63961.

Developing a Profile of Canadian Children With Cerebral Palsy Who Require Augmentative and Alternative Communication.

Coan-Brill J, Costigan FA, Kay J, et al.

American journal of speech-language pathology 2025; (34(2)):605-616 doi:10.1044/2024_AJSLP-24-00284.

The gain-of-function UBE3AQ588E variant causes Angelman-like neurodevelopmental phenotypes in mice.

Weston KP, Gunelson AM, Maloney SE, et al.

Scientific reports 2025; (15(1)):9152 doi:10.1038/s41598-025-92511-w.

Mortality in patients with epilepsy: a systematic review.

Xu X, Sha L, Basang S, et al.

Journal of neurology 2025; (272(4)):291 doi:10.1007/s00415-025-13002-6.

Prader Willi syndrome: advances in genetics.

Hingar S, Schneeberger Pané M, Romero MJO

Advances in genetics 2025; (113()):29-52 doi:10.1016/bs.adgen.2025.03.001.

Caregiving Burden and Quality of Life Among Parents of Individuals With Angelman Syndrome: Gender Differences and the Impact of Financial Well-Being.

Walkowiak D, Domaradzki J

Pediatric neurology 2025; (169()):31-39 doi:10.1016/j.pediatrneurol.2025.05.005.

Angelman Syndrome: Multidisciplinary Management.

Bridges WA, Temples HS, Lowe TB

Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2025; (39(6)):968-975 doi:10.1016/j.pedhc.2025.06.005.

The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.

Hipp JF, Bacino CA, Bird LM, et al.

Nature medicine 2025; (31(9)):2936-2945 doi:10.1038/s41591-025-03784-7.

Assessment of Dysphagia in Chinese Cohort of Angelman Syndrome: An Observational Study.

Chen Y, Wang Y, Zhang Y, et al.

CNS neuroscience & therapeutics 2025; (31(8)):e70587 doi:10.1111/cns.70587.

UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects.

Milazzo C, Narayanan R, Badillo S, et al.

Molecular autism 2025; (16(1)):45 doi:10.1186/s13229-025-00675-z.

Angelman syndrome patient-derived neuron screen leads to clinical ASO rugonersen targeting UBE3A-ATS with long-lasting effect in monkeys.

Jagasia R, Bon C, Rasmussen SV, et al.

Nucleic acids research 2025; (53(16)) doi:10.1093/nar/gkaf851.

AAV-dCas9 vector unsilences paternal Ube3a in neurons by impeding Ube3a-ATS transcription.

Wolter JM, James LM, Boeshore SL, et al.

Communications biology 2025; (8(1)):1332 doi:10.1038/s42003-025-08794-2.

Efficacy and tolerability of a low-glycemic-index ketogenic diet in Angelman syndrome: findings from the DIANE study.

Iglesias Escalera G, Cazorla Calleja R, Lorenzo Ruiz M, et al.

Orphanet journal of rare diseases 2025; (20(1)):525 doi:10.1186/s13023-025-04037-z.

Occupational Therapy Interventions Using Ayres Sensory Integration® for Children and Youth (2015-2024): A Systematic Review.

Piller A, Glennon TJ, Andelin L, et al.

The American journal of occupational therapy : official publication of the American Occupational Therapy Association 2026; (80(1)) doi:10.5014/ajot.2025.051130.