DNA methylation biomarkers of intellectual/developmental disability across the lifespan

Authors: Janine M. LaSalle

Source: Journal of Neurodevelopmental Disorders, Vol 17, Iss 1, Pp 1-10 (2025)

Subject Terms: DNA methylation, Epigenetics, Autism, Down syndrome, Dup15q syndrome, Exposure, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/1866-1955

Access URL: https://doaj.org/article/118bc3bd35f749a59554f0ab61ffd1d5

Small molecule ion channel agonist/antagonist screen reveals seizure suppression via glial Irk2 activation in a Drosophila model of Dup15q syndrome

Authors: Benjamin Geier, Bidisha Roy, Lawrence T. Reiter

Source: Neurobiology of Disease, Vol 208, Iss , Pp 106882- (2025)

Subject Terms: Drosophila, Dup15q syndrome, Epilepsy, Drug screen, Ion channels, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996125000981; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/ff9704c72475407db83de6848cd243da

A high sensitivity assay of UBE3A ubiquitin ligase activity

Authors: Han, Linna ^⁎, Begum Yagci, Z., Keung, Albert J. ^⁎

Source: In Methods March 2025 235:92-99

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

Authors: Vidya Saravanapandian, Melika Madani, India Nichols, Scott Vincent, Mary Dover, Dante Dikeman, Benjamin D. Philpot, Toru Takumi, Christopher S. Colwell, Shafali Jeste, Ketema N. Paul, Peyman Golshani

Source: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-16 (2024)

Subject Terms: Dup15q syndrome, Autism, Biomarkers, Sleep, EEG, GABA, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/1866-1955

Access URL: https://doaj.org/article/7a9ff40a16224580afd1c0543e8114e0

Regional and cellular organization of the autism-associated protein UBE3A/E6AP and its antisense transcript in the brain of the developing rhesus monkey

Authors: Chavely Gonzalez Ramirez, Sarah G. Salvador, Ridthi Kartik Rekha Patel, Sarah Clark, Noah W. Miller, Lucas M. James, Nicholas W. Ringelberg, Jeremy M. Simon, Jeffrey Bennett, David G. Amaral, Alain C. Burette, Benjamin D. Philpot

Source: Frontiers in Neuroanatomy, Vol 18 (2024)

Subject Terms: Angelman syndrome, Dup15q syndrome, E6-AP, UBE3A-ATS, rhesus macaque, hippocampus, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Human anatomy, QM1-695

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnana.2024.1410791/full; https://doaj.org/toc/1662-5129

Access URL: https://doaj.org/article/33877a6fbffd43a480e77efec52fb40f

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

Authors: Rabeya Akter Mim, Anjana Soorajkumar, Noor Kosaji, Muhammad Mizanur Rahman, Shaoli Sarker, Noushad Karuvantevida, Tamannyat Binte Eshaque, Md Atikur Rahaman, Amirul Islam, Mohammod Shah Jahan Chowdhury, Nusrat Shams, K. M. Furkan Uddin, Hosneara Akter, Mohammed Uddin

Source: Brain and Behavior, Vol 14, Iss 4, Pp n/a-n/a (2024)

Subject Terms: 15q11–q13 duplication syndrome (Dup15q syndrome), Angelman syndrome, chromosome 15q11–q13 region, Prader–Willi syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/2162-3279

Access URL: https://doaj.org/article/d2f63ef63fa54a7cabbd9daec83e03d0

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

Authors: Vidya Saravanapandian, Divya Nadkarni, Sheng-Hsiou Hsu, Shaun A. Hussain, Kiran Maski, Peyman Golshani, Christopher S. Colwell, Saravanavel Balasubramanian, Amos Dixon, Daniel H. Geschwind, Shafali S. Jeste

Source: Molecular Autism, Vol 12, Iss 1, Pp 1-14 (2021)

Subject Terms: Dup15q syndrome, Autism, Sleep, EEG, GABAAR, UBE3A, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2040-2392

Access URL: https://doaj.org/article/5f3b114f4fb34c64b3861c3193773ec2

Properties of beta oscillations in Dup15q syndrome

Authors: Vidya Saravanapandian, Joel Frohlich, Joerg F. Hipp, Carly Hyde, Aaron W. Scheffler, Peyman Golshani, Edwin H. Cook, Lawrence T. Reiter, Damla Senturk, Shafali S. Jeste

Source: Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-15 (2020)

Subject Terms: Dup15q syndrome, Autism, Biomarkers, EEG, GABA, UBE3A, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s11689-020-09326-1; https://doaj.org/toc/1866-1947; https://doaj.org/toc/1866-1955

Access URL: https://doaj.org/article/e15855b4fa354cdb8f21be5a7ddd9caf

Mechanisms underlying the EEG biomarker in Dup15q syndrome

Authors: Joel Frohlich, Lawrence T. Reiter, Vidya Saravanapandian, Charlotte DiStefano, Scott Huberty, Carly Hyde, Stormy Chamberlain, Carrie E. Bearden, Peyman Golshani, Andrei Irimia, Richard W. Olsen, Joerg F. Hipp, Shafali S. Jeste

Source: Molecular Autism, Vol 10, Iss 1, Pp 1-15 (2019)

Subject Terms: Dup15q syndrome, GABA, UBE3A, Biomarkers, Autism, EEG, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13229-019-0280-6; https://doaj.org/toc/2040-2392

Access URL: https://doaj.org/article/7663de861abe46c8bab5e459db26cd65

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Soticlestat Decreases Motor Frequency in CDKL5 Deficiency Disorder, With Benefits in Dup15q Syndrome

Authors: By:Marco Meglio

Source: Neurology Live (USA), May 16, 2023 News, 4pp

Soticlestat Reduces Seizure Frequency in Rare Epilepsies

Authors: By:Marco Meglio

Source: Neurology Times (USA), October 5, 2020 News, 3pp

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