Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome

Authors: Odelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, Neta Feinstein-Goren, Aviva Eliyahu, Hagit Shani, Elon Pras, Tal Weissbach, Yoav Bolkier, Gali Heimer, Dorit Lev, Marina Michelson, Miriam Regev, Sagi Josefsberg, Nurit Assia Batzir, Adel Shalata, Ronen Spiegel, Reeval Segel, Orit Lobel, Bassam Abu-Libdeh, Mordechai Shohat, Moshe Frydman, Ronen Hady-Cohen, Ben Pode-Shakked, Annick Rein-Rothschild

Source: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-11 (2025)

Subject Terms: SHANK3, Phelan–McDermid syndrome, Autism spectrum disorder, Intellectual disability, Copy number variant, Single nucleotide variant, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/931d362c3b144ce39e0b9a2d0a08746e

Prenatal diagnosis of a 5.44-Mb de novo 22q13.31q13.33 deletion encompassing SHANK3 associated with mosaicism for r(22)(p11.2q11.31) and monosomy 22 in a fetus with severe right hydronephrosis and hydroureter on ultrasound and determination of a maternal origin of the deletion and r(22) by quantitative fluorescent polymerase chain reaction

Authors: Chih-Ping Chen, Liang-Kai Wang, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chen-Wen Pan, Wayseen Wang

Source: Taiwanese Journal of Obstetrics & Gynecology, Vol 64, Iss 2, Pp 334-338 (2025)

Subject Terms: 22q13 deletion syndrome, Mosaicism, Phelan-McDermid syndrome, r(22), SHANK3, Gynecology and obstetrics, RG1-991

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1028455925000348; https://doaj.org/toc/1028-4559

Access URL: https://doaj.org/article/9f3010261edd4ce5a21517dfac0e75ac

Determination of damaging SNP’s in SHANK3 gene with in silico methods

Authors: İrem Gülfem Albayrak, Şeyma Yektar, Süeda Kaya

Source: Egyptian Journal of Medical Human Genetics, Vol 26, Iss 1, Pp 1-9 (2025)

Subject Terms: Autism Spectrum Disorder, Polymorphism, SHANK3, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2090-2441

Access URL: https://doaj.org/article/c7b58e175d324d5085619473d9cc89f2

Behavioral decline in Shank3 Δex4–22 mice during early adulthood parallels cerebellar granule cell glutamatergic synaptic changes

Authors: Rajaram Kshetri, James O. Beavers, Romana Hyde, Roseline Ewa, Amber Schwertman, Sarahi Porcayo, Ben D. Richardson

Source: Molecular Autism, Vol 15, Iss 1, Pp 1-21 (2024)

Subject Terms: Shank3, Autism spectrum disorder, Phelan-McDermid syndrome, Cerebellum, Glutamate receptor, AMPAR, 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/6dab4f94e5984fe6a60755ae9eb37ef6

Shank3 mutation manifests in abnormal gastrointestinal morphology and function in mice

Authors: Gari L. Eberly, Marie Manthey, Karen K. L. Pang, Heba Hussein, Emmanuel Vargas Paniagua, Scott Machen, Sara Maeve Klingensmith, Polina Anikeeva

Source: Frontiers in Neuroscience, Vol 19 (2025)

Subject Terms: Shank3, enteric nervous system, gastrointestinal abnormalities, dysmotility, gastric permeability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2025.1552369/full; https://doaj.org/toc/1662-453X

Access URL: https://doaj.org/article/85f6184d08a84645906d1416ee526c1b

An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome

Authors: Tess Levy, J. Lloyd Holder, Jr., Joseph P. Horrigan, Michael F. Snape, Alison McMorn, Christina Layton, Hailey Silver, Kate Friedman, Hannah Grosman, Slayton Underwood, Danielle Halpern, Jessica Zweifach, Paige M. Siper, Alexander Kolevzon

Source: HGG Advances, Vol 6, Iss 2, Pp 100393- (2025)

Subject Terms: AMO-01, shank3, Phelan-McDermid syndrome, PMS, seizures, epilepsy, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724001337; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/c54a70acd46c4307bd9e6e1a1b4739e3

Phenotype and psychometric characterization of Phelan-McDermid syndrome patients: pioneering towards personalized medicine

Authors: Julián Nevado, Filippo Ciceri, Cristina Bel-Fenellós, Jair A. Tenorio-Castaño, Tamara Maes, Jordi Xaus, Carlos Buesa, Pablo Lapunzina

Source: Frontiers in Psychiatry, Vol 16 (2025)

Subject Terms: Phelan McDermid, personalized medicine, aggressively, cognitive-behavioral aspects, genomic medicine, SHANK3 gene, Psychiatry, RC435-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2025.1511962/full; https://doaj.org/toc/1664-0640

Access URL: https://doaj.org/article/e132c980c9034c329e5bffa465f1f45c

Sex differences in sleep deficits in mice with an autism-linked Shank3 mutation

Authors: Elizabeth Medina, Michael J. Rempe, Christine Muheim, Hannah Schoch, Kristan Singletary, Kaitlyn Ford, Lucia Peixoto

Source: Biology of Sex Differences, Vol 15, Iss 1, Pp 1-11 (2024)

Subject Terms: Development, Sex differences, Autism spectrum disorder, Sleep, SHANK3, Medicine, Physiology, QP1-981

File Description: electronic resource

Relation: https://doaj.org/toc/2042-6410

Access URL: https://doaj.org/article/6a22046cde1c4305a7695d4558c7e406

Unravelling the role of SHANK3 mutations in targeted therapies for autism spectrum disorders

Authors: Xingshen Li

Source: Discover Psychology, Vol 4, Iss 1, Pp 1-9 (2024)

Subject Terms: Autism spectrum disorder (ASD), SHANK3 gene mutations, Synaptic dysfunction, Genetic therapeutic strategies, SHANK3-deficient mouse models, Psychology, BF1-990

File Description: electronic resource

Relation: https://doaj.org/toc/2731-4537

Access URL: https://doaj.org/article/98b8a3691d0349ee825af5e0d4cd9f40

Shank3 deficiency alters midbrain GABAergic neuron morphology, GABAergic markers and synaptic activity in primary striatal neurons

Authors: Zuzana Bačová, Bohumila Jurkovičová-Tarabová, Tomáš Havránek, Denisa Mihalj, Veronika Borbélyová, Zdenko Pirnik, Boris Mravec, Daniela Ostatníková, Ján Bakoš

Source: Molecular Brain, Vol 17, Iss 1, Pp 1-10 (2024)

Subject Terms: Autism spectrum disorder, Nucleus accumbens, Ventral tegmental area, GABA, Shank3, Neurite outgrowth, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/1756-6606

Access URL: https://doaj.org/article/f13ea17d4655435b8646cc83a4e50af7

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

Authors: Rui Yin, Maxime Wack, Claire Hassen-Khodja, Michael T. McDuffie, Geraldine Bliss, Elizabeth J. Horn, Cartik Kothari, Brittany McLarney, Rebecca Davis, Kristen Hanson, Megan O’Boyle, Catalina Betancur, Paul Avillach

Source: Molecular Autism, Vol 15, Iss 1, Pp 1-18 (2024)

Subject Terms: Phelan-McDermid syndrome, SHANK3, 22q13.3 deletion, Phenome-wide association study, 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/6a99ab8229bd44dfa398029474c7791b

Exploring the common genes involved in autism spectrum disorder and Parkinson's disease: A systematic review

Authors: Kanchan Bala, Khadga Raj Aran

Source: Aging and Health Research, Vol 4, Iss 4, Pp 100206- (2024)

Subject Terms: Autism spectrum disorder, Parkinson's disease, PARK2, SHANK3, SLC, Geriatrics, RC952-954.6

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667032124000271; https://doaj.org/toc/2667-0321

Access URL: https://doaj.org/article/65376eccbd894429bd43371960262bb1

Disrupted Human–Dog Interbrain Neural Coupling in Autism‐Associated Shank3 Mutant Dogs

Authors: Wei Ren, Shan Yu, Kun Guo, Chunming Lu, Yong Q. Zhang

Source: Advanced Science, Vol 11, Iss 41, Pp n/a-n/a (2024)

Subject Terms: autism spectrum disorders, human–dog dyads, interbrain neural couplings, lysergic acid diethylamide, Shank3, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2198-3844

Access URL: https://doaj.org/article/37472f42108d43a0a192d609ab68b55a

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Authors: Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium

Source: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)

Subject Terms: Phelan-McDermid syndrome, 22q13, SHANK3, Seizures, Epilepsy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

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

Access URL: https://doaj.org/article/c7f7dd3f29da4a4e89819f90781e8706

Metabolomic Profiling of the Striatum in Shank3 Knockout ASD Rats: Effects of Early Swimming Regulation

Authors: Yunchen Meng, Yiling Hu, Yaqi Xue, Zhiping Zhen

Source: Metabolites, Vol 15, Iss 2, p 134 (2025)

Subject Terms: Shank3, early swimming, striatum, metabolism, neurotransmitter, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-1989/15/2/134; https://doaj.org/toc/2218-1989

Access URL: https://doaj.org/article/8915a8d54bd5495ebc091991553b5b53

Shank3 deficiency elicits autistic-like behaviors by activating p38α in hypothalamic AgRP neurons

Authors: Shanshan Wu, Jing Wang, Zicheng Zhang, Xinchen Jin, Yang Xu, Youwen Si, Yixiao Liang, Yueping Ge, Huidong Zhan, Li peng, Wenkai Bi, Dandan Luo, Mengzhu Li, Bo Meng, Qingbo Guan, Jiajun Zhao, Ling Gao, Zhao He

Source: Molecular Autism, Vol 15, Iss 1, Pp 1-13 (2024)

Subject Terms: Autism, p38α, SHANK3, AgRP, Stereotypic behavior, Sociability, 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/f9fcdf42f0c44ba9a4031e4ad8b9d774

Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome

Authors: Luciana Gizzo, Geraldine Bliss, Chrystal Palaty, Alexander Kolevzon

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)

Subject Terms: Phelan-McDermid syndrome, PMS, SHANK3, Autism spectrum disorder, ASD, Drug development, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/c76bfb9944134a169b74eae592f6de97

Impaired synaptic function and hyperexcitability of the pyramidal neurons in the prefrontal cortex of autism-associated Shank3 mutant dogs

Authors: Feipeng Zhu, Qi Shi, Yong-hui Jiang, Yong Q. Zhang, Hui Zhao

Source: Molecular Autism, Vol 15, Iss 1, Pp 1-14 (2024)

Subject Terms: Shank3, Autism spectrum disorder, Synaptic transmission, Excitability, Dog, 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/c33e2697ba1d414aa5290ce5fc5ff14d

Expression profiles of the autism-related SHANK proteins in the human brain

Authors: Sarah Woelfle, Maria T. Pedro, Jan Wagner, Michael Schön, Tobias M. Boeckers

Source: BMC Biology, Vol 21, Iss 1, Pp 1-22 (2023)

Subject Terms: SHANK2, SHANK3, Post mortem human brain, Brain regions, Protein expression, Autism spectrum disorders, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1741-7007

Access URL: https://doaj.org/article/44649bbd86994de2b05955bbc047914f

EGR1 Regulates SHANK3 Transcription at Different Stages of Brain Development

Authors: Juan, Chen-Xia ^{a, b, †}, Mao, Yan ^{a, †}, Han, Xiao ^c, Qian, Hua-Ying ^b, Chu, Kang-Kang ^{b, ⁎}

Source: In Neuroscience 5 March 2024 540:27-37