| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Joseph S Anderson, Alyse L Lodigiani, Camilla M Barbaduomo, Julie R Beegl. Hematopoietic stem cell gene therapy for the treatment of SYNGAP1-related non-specific intellectual disability. The journal of gene medicine. vol 26. issue 7. 2024-07-05. PMID:38967915. |
synaptic ras gtpase activating protein 1 (syngap1)-related non-specific intellectual disability is a neurodevelopmental disorder caused by an insufficient level of syngap1 resulting in a dysfunction of neuronal synapses and presenting with a wide array of clinical phenotypes. |
2024-07-05 |
2024-07-11 |
Not clear |
| Mario Mastrangelo, Filippo Manti, Giacomina Ricciardi, Elisa Maria Colacino Cinnante, Noemi Cameli, Annachiara Beatrice, Manuela Tolve, Francesco Pisan. The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review. European journal of pediatrics. 2024-07-02. PMID:38954008. |
csf/blood glucose ratio ≤ 0.45 was significantly associated with absence seizures (p = 0.048), paroxysmal exercise-induced dyskinesia (p = 0.046), and intellectual disability (p = 0.016) while csf lactate > 1 mmol/l was associated with a response to antiseizure medications (p = 0.026) but not to ketogenic diet.conclusions:this systematic review supported the diagnostic usefulness of lumbar puncture for the early identification of patients with glut1 deficiency responsive to treatments especially if they present with co-occurring epilepsy, movement, and neurodevelopmental disorders. |
2024-07-02 |
2024-07-06 |
Not clear |
| Jordan E Norris, Elizabeth M Berry-Kravis, Mark D Harnett, Scott A Reines, Melody A Reese, Abigail H Outterson, Claire Michalak, Jeremiah Furman, Mark E Gurney, Lauren E Ethridg. Auditory N1 event-related potential amplitude is predictive of serum concentration of BPN14770 in fragile x syndrome. Research square. 2024-07-01. PMID:38946987. |
fragile x syndrome (fxs) is a rare neurodevelopmental disorder caused by a cgg repeat expansion ≥ 200 repeats in 5' untranslated region of the fmr1 gene, leading to intellectual disability and cognitive difficulties, including in the domain of communication. |
2024-07-01 |
2024-07-03 |
human |
| Cristina Peduto, Gerarda Cappuccio, Roberta Zeuli, Mariateresa Zanobio, Annalaura Torella, Fowzan S Alkuraya, Shelagh Joss, Cecilia Daolio, Alessandro Mauro Spinelli, Stefania Zampieri, Vincenzo Nigro, Nicola Brunetti-Pierr. Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants. American journal of medical genetics. Part A. 2024-06-26. PMID:38924631. |
haploinsufficiency of foxp1 gene is responsible for a neurodevelopmental disorder presenting with intellectual disability (id), autism spectrum disorder (asd), hypotonia, mild dysmorphic features, and multiple congenital anomalies. |
2024-06-26 |
2024-06-29 |
Not clear |
| Claire Ward, Kaoutsar Nasrallah, Duy Tran, Ehsan Sabri, Arenski Vazquez, Lucas Sjulson, Pablo E Castillo, Renata Batista-Brit. Developmental Disruption of Mef2c in Medial Ganglionic Eminence-derived cortical inhibitory interneurons impairs cellular and circuit function. Biological psychiatry. 2024-06-07. PMID:38848814. |
mef2c is strongly linked to various neurodevelopmental disorders (ndds) including autism, intellectual disability, schizophrenia, and attention-deficit/hyperactivity. |
2024-06-07 |
2024-06-10 |
mouse |
| Shulin Luo, Lingyan Ren, Rongping Wang, Jianxin Hu, Wei Wei, Yurong Feng, Shengwen Huan. Functional analysis of a novel intronic variant of Heliyon. vol 10. issue 10. 2024-06-01. PMID:38818167. |
functional analysis of a novel intronic variant of autosomal recurrent primary microscopic (mcph, omim: 251200) is a neurodevelopmental disorder that is characterized by a noticeable decrease in brain size, particularly in the cerebral cortex, but with a normal brain structure and a non-progressive intellectual disability. |
2024-06-01 |
2024-06-02 |
Not clear |
| b' Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Genevi\xe8ve, Daphn\xe9 Lehalle, K L I van Gassen, Jacques C Giltay, Renske Oegema, Richard H van Jaarsveld, Rafiullah Rafiullah, Gudrun A Rappold, Rachel Rabin, John G Pappas, Marsha M Wheeler, Michael J Bamshad, Yao-Chang Tsan, Matthew B Johnson, Catherine E Keegan, Anshika Srivastava, Stephanie L Biela. Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations. Cell death & disease. vol 15. issue 5. 2024-05-30. PMID:38816421.' |
biallelic variants in csmd1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations. |
2024-05-30 |
2024-06-02 |
human |
| Emilie Bochud-Fragnière, Gianni Lonchampt, Paola Bittolo, Giada Ehrensperger, Antonella Rita Circelli, Nicole Antonicelli, Floriana Costanzo, Deny Menghini, Stefano Vicari, Pamela Banta Lavenex, Pierre Lavene. Why do individuals with Williams syndrome or Down syndrome fail the Weather Prediction Task? Developmental psychobiology. vol 66. issue 5. 2024-05-29. PMID:38807263. |
williams syndrome (ws) and down syndrome (ds) are two neurodevelopmental disorders with distinct genetic origins characterized by mild to moderate intellectual disability. |
2024-05-29 |
2024-06-03 |
Not clear |
| Jérémie Courraud, Camille Engel, Angélique Quartier, Nathalie Drouot, Ursula Houessou, Damien Plassard, Arthur Sorlin, Elise Brischoux-Boucher, Evan Gouy, Lionel Van Maldergem, Massimiliano Rossi, Gaetan Lesca, Patrick Edery, Audrey Putoux, Frederic Bilan, Brigitte Gilbert-Dussardier, Isis Atallah, Vera M Kalscheuer, Jean-Louis Mandel, Amélie Pito. Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome. Molecular psychiatry. vol 29. issue 2. 2024-05-23. PMID:38030819. |
mutations in the pqbp1 gene (polyglutamine-binding protein-1) are responsible for a syndromic x-linked form of neurodevelopmental disorder (xl-ndd) with intellectual disability (id), named renpenning syndrome. |
2024-05-23 |
2024-05-27 |
human |
| Jing Zhang, Xinting Liu, Gang Zhu, Lin Wan, Yan Liang, Nannan Li, Mingwei Huang, Guang Yan. Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies. Brain and behavior. vol 14. issue 5. 2024-05-22. PMID:38773790. |
several biallelic truncating and missense variants of the gem nuclear organelle-associated protein 5 (gemin5) gene have been reported to cause neurodevelopmental disorders characterized by cerebellar atrophy, intellectual disability, and motor dysfunction. |
2024-05-22 |
2024-05-27 |
Not clear |
| b' Rahime Duygu Temelt\\xc3\\xbcrk, G\\xc3\\xb6k\\xc3\\xa7en \\xc4\\xb0l\\xc3\\xa7io\\xc4\\x9flu Ekici, G\\xc3\\xb6k\\xc3\\xa7e Ya\\xc4\\x9fmur Efendi, Birim G\\xc3\\xbcnay K\\xc4\\xb1l\\xc4\\xb1\\xc3\\xa. Use of Clonidine in Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder Comorbidity: Report of 3 Cases. Psychiatry and clinical psychopharmacology. vol 33. issue 4. 2024-05-21. PMID:38765842.' |
herein, we present 3 cases with adhd and asd comorbidity, if any, as well as other neurodevelopmental disorders, including intellectual disability and tourette's disorder, treated with clonidine. |
2024-05-21 |
2024-05-27 |
Not clear |
| Dana T Byrd, Ziyuan Christina Han, Christopher A Piggott, Yishi Ji. PACS-1 variant protein is aberrantly localized in bioRxiv : the preprint server for biology. 2024-05-16. PMID:38712144. |
pacs1, pacs2, and wdr37 variants are associated with multisystemic syndromes and neurodevelopmental disorders characterized by intellectual disability, seizures, developmental delays, craniofacial abnormalities, and autism spectrum disorder. |
2024-05-16 |
2024-05-27 |
Not clear |
| Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Rober Kopajtich, Holger Prokisch, Judith Armstron. Multi-omics in MECP2 duplication syndrome patients and carriers. The European journal of neuroscience. 2024-05-15. PMID:38746988. |
mecp2 duplication syndrome (mds) is an x-linked neurodevelopmental disorder caused by the gain of dose of at least the genes mecp2 and irak1 and is characterised by intellectual disability (id), developmental delay, hypotonia, epilepsy and recurrent infections. |
2024-05-15 |
2024-05-27 |
human |
| Fabian Heim, Constance Scharff, Simon E Fisher, Katharina Riebel, Carel Ten Cat. Auditory discrimination learning and acoustic cue weighing in female zebra finches with localised FoxP1 knockdowns. Journal of neurophysiology. 2024-04-17. PMID:38629163. |
rare disruptions of the transcription factor foxp1 are implicated in a human neurodevelopmental disorder characterised by autism and/or intellectual disability with prominent problems in speech and language abilities. |
2024-04-17 |
2024-04-19 |
human |
| Liselot van der Laan, Peter Lauffer, Kathleen Rooney, Ananília Silva, Sadegheh Haghshenas, Raissa Relator, Michael A Levy, Slavica Trajkova, Sylvia A Huisman, Emilia K Bijlsma, Tjitske Kleefstra, Bregje W van Bon, Özlem Baysal, Christiane Zweier, María Palomares-Bralo, Jan Fischer, Katalin Szakszon, Laurence Faivre, Amélie Piton, Simone Mesman, Ron Hochstenbach, Mariet W Elting, Johanna M van Hagen, Astrid S Plomp, Marcel M A M Mannens, Mariëlle Alders, Mieke M van Haelst, Giovanni B Ferrero, Alfredo Brusco, Peter Henneman, David A Sweetser, Bekim Sadikovic, Antonio Vitobello, Leonie A Menk. DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants. HGG advances. 2024-04-04. PMID:38571311. |
pitt-hopkins syndrome (pths) is a neurodevelopmental disorder caused by pathogenic variants in tcf4, leading to intellectual disability, specific morphological features, and autonomic nervous system dysfunction. |
2024-04-04 |
2024-04-06 |
Not clear |
| Jill Silverman, Timothy Fenton, Olivia Haouchine, Elizabeth Hallam, Emily Smith, Roy Ben-Shalom, Kiya Jackson, Cesar Canales, Alex Nord, Anna Adhikari, Darlene Rahbaria. Hyperexcitability and translational phenotypes in a preclinical mouse model of SYNGAP1-Related Intellectual Disability. Research square. 2024-04-02. PMID:38562838. |
disruption of syngap1 directly causes a genetically identifiable neurodevelopmental disorder (ndd) called syngap1-related intellectual disability (srid). |
2024-04-02 |
2024-04-04 |
mouse |
| Juliette Salles, Sanaa Eddiry, Saber Amri, Mélissa Galindo, Emmanuelle Lacassagne, Simon George, Xavier Mialhe, Émeline Lhuillier, Nicolas Franchitto, Freddy Jeanneteau, Isabelle Gennero, Jean-Pierre Salles, Maithé Taube. Differential DNA methylation in iPSC-derived dopaminergic neurons: a step forward on the role of SNORD116 microdeletion in the pathophysiology of addictive behavior in Prader-Willi syndrome. Molecular psychiatry. 2024-04-01. PMID:38561465. |
pws is a neurodevelopmental disorder clinically characterized by endocrine impairment, intellectual disability and psychiatric symptoms such as a lack of emotional regulation, impulsivity, and intense temper tantrums with outbursts. |
2024-04-01 |
2024-04-04 |
human |
| Lin-Yu Li, Ayako Imai, Hironori Izumi, Ran Inoue, Yumie Koshidaka, Keizo Takao, Hisashi Mori, Tomoyuki Yoshid. Differential contribution of canonical and noncanonical NLGN3 pathways to early social development and memory performance. Molecular brain. vol 17. issue 1. 2024-03-13. PMID:38475840. |
although, nlgn3 gene is known as a risk gene for neurodevelopmental disorders such as autism spectrum disorder (asd) and intellectual disability (id), the pathogenic contribution of the canonical nlgn3-nrxn and noncanonical nlgn3-ptpδ pathways to these disorders remains elusive. |
2024-03-13 |
2024-03-15 |
mouse |
| Salvatore J Cherra, Reagan Lam. Interactions between Ras and Rap signaling pathways during neurodevelopment in health and disease. Frontiers in molecular neuroscience. vol 17. 2024-03-11. PMID:38463630. |
while the underlying causes are not known, genetic mutations in ras and rap gtpase signaling pathways have been identified in numerous neurodevelopmental disorders, including autism spectrum, neurofibromatosis, intellectual disability, epilepsy, and schizophrenia. |
2024-03-11 |
2024-03-14 |
human |
| Huimin Li, Zhan Qi, Limin Xie, Chanjuan Hao, Wei L. The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants. Molecular genetics & genomic medicine. vol 12. issue 2. 2024-02-26. PMID:38407511. |
intellectual disability (id) is a con neurodevelopmental disorder in children. |
2024-02-26 |
2024-02-28 |
Not clear |