Research & Literature

Gastrointestinal problems in 15q duplication syndrome.

Shaaya EA, Pollack SF, Boronat S, et al.

European journal of medical genetics 2015; (58(3)):191-3.

PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication.

Dawson AJ, Cox J, Hovanes K, Spriggs E

Case reports in genetics 2015; (2015()):474097 doi:10.1155/2015/474097.

Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.

Szabo A, Czako M, Hadzsiev K, et al.

Molecular cytogenetics 2015; (8()):41 doi:10.1186/s13039-015-0137-4.

Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature.

Wang Q, Wu W, Xu Z, et al.

Molecular cytogenetics 2015; (8()):97 doi:10.1186/s13039-015-0198-4.

Parental-reported pain insensitivity in Dup15q.

Luchsinger K, Lau H, Hedlund JL, et al.

Epilepsy & behavior : E&B 2016; (55()):124-7.

Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q).

Arkilo D, Devinsky O, Mudigoudar B, et al.

Epilepsy & behavior : E&B 2016; (57(Pt A)):133-136 doi:10.1016/j.yebeh.2016.02.010.

Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome.

DiStefano C, Gulsrud A, Huberty S, et al.

Journal of neurodevelopmental disorders 2016; (8()):19 doi:10.1186/s11689-016-9152-y.

Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization.

Jang W, Chae H, Kim J, et al.

Molecular cytogenetics 2016; (9()):61 doi:10.1186/s13039-016-0273-5.

Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.

Battaglia A, Bernardini L, Torrente I, et al.

American journal of medical genetics. Part A 2016; (170(10)):2531-9 doi:10.1002/ajmg.a.37844.

Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation.

Bouhjar IB, Gmidène A, Soyah N, et al.

Journal of pediatric genetics 2012; (1(1)):63-8 doi:10.3233/PGE-2012-012.

Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome.

Chen CP, Lin SP, Chern SR, et al.

Taiwanese journal of obstetrics & gynecology 2016; (55(5)):728-732 doi:10.1016/j.tjog.2016.06.017.

Sudden unexpected death in epilepsy: measures to reduce risk.

Mclean B, Shankar R, Hanna J, et al.

Practical neurology 2017; (17(1)):13-20 doi:10.1136/practneurol-2016-001392.

A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome.

Frohlich J, Senturk D, Saravanapandian V, et al.

PloS one 2016; (11(12)):e0167179 doi:10.1371/journal.pone.0167179.

Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies.

Ozyilmaz B, Kirbiyik O, Koc A, et al.

Clinical genetics 2017; (92(4)):372-379 doi:10.1111/cge.12978.

Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15).

Matricardi S, Darra F, Spalice A, et al.

Acta neurologica Scandinavica 2018; (137(6)):575-581 doi:10.1111/ane.12902.

Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons.

Urraca N, Hope K, Victor AK, et al.

Molecular autism 2018; (9()):6 doi:10.1186/s13229-018-0191-y.

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.

Li H, Du J, Li W, et al.

Molecular cytogenetics 2018; (11()):15 doi:10.1186/s13039-018-0365-5.

[A clinical and genetic analysis of a child with supernumerary marker chromosome 15-caused mental retardation, intractable epilepsy, and central precocious puberty].

Gao ZJ, Jiang Q, Chen Q, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018; (20(8)):652-657.

A systematic review of sudden unexpected death in epilepsy (SUDEP) in childhood.

Abdel-Mannan O, Taylor H, Donner EJ, Sutcliffe AG

Epilepsy & behavior : E&B 2019; (90()):99-106 doi:10.1016/j.yebeh.2018.11.006.

A genome-wide enhancer/suppressor screen for Dube3a interacting genes in Drosophila melanogaster.

Hope KA, McGinn A, Reiter LT

Scientific reports 2019; (9(1)):2382 doi:10.1038/s41598-019-38663-y.

The Autism and Angelman Syndrome Protein Ube3A/E6AP: The Gene, E3 Ligase Ubiquitination Targets and Neurobiological Functions.

Khatri N, Man HY

Frontiers in molecular neuroscience 2019; (12()):109 doi:10.3389/fnmol.2019.00109.

Acute lymphoblastic leukemia in a nine-year-old girl with isodicentric chromosome 15 syndrome.

Antonucci R, Vacca N, Ghisu E, et al.

Cancer genetics 2019; (235-236()):93-94 doi:10.1016/j.cancergen.2019.05.001.

Mechanisms underlying the EEG biomarker in Dup15q syndrome.

Frohlich J, Reiter LT, Saravanapandian V, et al.

Molecular autism 2019; (10()):29 doi:10.1186/s13229-019-0280-6.

[Effect of prednisolone and adrenocorticotropic hormone in the treatment of infantile spasms: a Meta analysis].

Luo KR, Tang J, Mu DZ

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019; (21(7)):656-662.

Inverted duplication, triplication and quintuplication through sequential breakage-fusion-bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion.

Chai H, Grommisch B, DiAdamo A, et al.

Molecular genetics & genomic medicine 2019; (7(10)):e00965 doi:10.1002/mgg3.965.

Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients.

Czakó M, Till Á, Szabó A, et al.

International journal of molecular sciences 2019; (20(19)) doi:10.3390/ijms20194935.

Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD.

Wilson RB, Elashoff D, Gouelle A, et al.

Autism research : official journal of the International Society for Autism Research 2020; (13(7)):1102-1110 doi:10.1002/aur.2298.

Properties of beta oscillations in Dup15q syndrome.

Saravanapandian V, Frohlich J, Hipp JF, et al.

Journal of neurodevelopmental disorders 2020; (12(1)):22 doi:10.1186/s11689-020-09326-1.

Relationships among gastrointestinal symptoms, sleep problems, challenging behaviour, comorbid psychopathology and autism spectrum disorder symptoms in children and adolescents with 15q duplication syndrome.

Leader G, Forde J, Naughton K, et al.

Journal of intellectual disability research : JIDR 2021; (65(1)):32-46 doi:10.1111/jir.12789.

Communication-related assessments in an Angelman syndrome mouse model.

Perrino PA, Chamberlain SJ, Eigsti IM, Fitch RH

Brain and behavior 2021; (11(1)):e01937 doi:10.1002/brb3.1937.

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.

Kim MJ, Yum MS, Seo GH, et al.

Journal of clinical medicine 2020; (9(11)) doi:10.3390/jcm9113724.

A report on seven fetal cases associated with 15q11-q13 microdeletion and microduplication.

Huang X, Chen J, Hu W, et al.

Molecular genetics & genomic medicine 2021; (9(3)):e1605 doi:10.1002/mgg3.1605.

Risk of SUDEP during infancy.

Trivisano M, Muccioli L, Ferretti A, et al.

Epilepsy & behavior : E&B 2022; (131(Pt B)):107896 doi:10.1016/j.yebeh.2021.107896.

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.

Dangles MT, Malan V, Dumas G, et al.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2021; (132(5)):1126-1137 doi:10.1016/j.clinph.2021.02.010.

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Grunseich C, Sarkar N, Lu J, et al.

Journal of neurology, neurosurgery, and psychiatry 2021; (92(11)):1186-1196 doi:10.1136/jnnp-2020-325437.

Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome.

Saravanapandian V, Nadkarni D, Hsu SH, et al.

Molecular autism 2021; (12(1)):54 doi:10.1186/s13229-021-00460-8.

Measurement of Sleep Behaviors in Chromosome 15q11.2-13.1 Duplication (Dup15q Syndrome).

Barstein J, Jeste S, Saravanapandian V, et al.

American journal on intellectual and developmental disabilities 2021; (126(6)):505-510 doi:10.1352/1944-7558-126.6.505.

The Linkage Between Autism Spectrum Disorder and Dup15q Syndrome: A Case Report.

Shehi E, Shah H, Singh A, et al.

Cureus 2022; (14(4)):e24205 doi:10.7759/cureus.24205.

Molecular and behavioral consequences of Ube3a gene overdosage in mice.

Punt AM, Judson MC, Sidorov MS, et al.

JCI insight 2022; (7(18)).

Advances in sudden unexpected death in epilepsy.

Zhao H, Long L, Xiao B

Acta neurologica Scandinavica 2022; (146(6)):716-722 doi:10.1111/ane.13715.

Efficacy, safety, and tolerability of soticlestat as adjunctive therapy for the treatment of seizures in patients with Dup15q syndrome or CDKL5 deficiency disorder in an open-label signal-finding phase II study (ARCADE).

Demarest S, Jeste S, Agarwal N, et al.

Epilepsy & behavior : E&B 2023; (142()):109173 doi:10.1016/j.yebeh.2023.109173.

An integrated action plan to fund and support drug development for Dup15q syndrome: a patient organization perspective.

Rogers-Hammond R, Howell C

Therapeutic advances in rare disease 2024; (5()):26330040241234932 doi:10.1177/26330040241234932.

Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region.

Mim RA, Soorajkumar A, Kosaji N, et al.

Brain and behavior 2024; (14(4)):e3437 doi:10.1002/brb3.3437.

Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.

Potter SN, Reynolds E, Okoniewski KC, et al.

Therapeutic advances in rare disease 2024; (5()):26330040241254122 doi:10.1177/26330040241254122.

Use of En-Bloc Multiple Monitored Electroconvulsive Therapy in Benzodiazepine Refractory Malignant Catatonia.

Louie AT, Anand E, Baldwin I, Smith JR

The journal of ECT 2025; (41(1)):62-65 doi:10.1097/YCT.0000000000001020.

Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome.

Saravanapandian V, Madani M, Nichols I, et al.

Journal of neurodevelopmental disorders 2024; (16(1)):39 doi:10.1186/s11689-024-09556-7.

First-choice hormonal therapies for children with infantile epileptic spasms syndrome in South Asia: A network meta-analysis of randomized controlled trials.

Devi N, Madaan P, Kandoth N, et al.

Epilepsia open 2024; (9(6)):2037-2048 doi:10.1002/epi4.13086.

Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic.

Besterman AD, Adams DJ, Wong NR, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(2)):101333 doi:10.1016/j.gim.2024.101333.

Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic.

Marsili L, Duque KR, Abanto J, et al.

Biomedicines 2024; (12(12)) doi:10.3390/biomedicines12122673.

Electroconvulsive therapy in autism spectrum disorders: an update to the literature.

Wachtel L, Luccarelli J, Falligant JM, Smith JR

Current opinion in psychiatry 2025; (38(2)):79-86 doi:10.1097/YCO.0000000000000985.

Dramatic Response to Neurostimulation in Children With Medically Intractable Epilepsy Related to Pseudoisodicentric Chromosome 15q Duplication: A Case Series.

Lockard T, Koh S, Thodeson DM

Pediatric neurology 2025; (170()):129-132 doi:10.1016/j.pediatrneurol.2025.06.014.

Real-World Practices in Educating Patients and Caregivers About Sudden Unexpected Death in Epilepsy: A Scoping Review.

Alzahrani LA, Aldweesh AF, Alotaibi AN, et al.

Saudi journal of medicine & medical sciences 2026; (14(1)):4-13 doi:10.4103/sjmms.sjmms_114_25.

Genomics of Complex Neurodevelopmental Disorders with Variable Epilepsy Phenotypes: A Clinical Review of Dup15q Syndrome.

Thodeson D, Lockard T, Koh S

Genes 2026; (17(2)) doi:10.3390/genes17020163.