| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Andrea Querzani, Fabio Sirchia, Gianluca Rustioni, Alessandra Rossi, Alessandro Orsini, Gian Luigi Marseglia, Salvatore Savasta, Luisa Chiapparini, Thomas Foiadell. KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype. Italian journal of pediatrics. vol 49. issue 1. 2023-08-22. PMID:37605258. |
among these, kirrel3 is known to play a role in cns development, and his variants have recently been related to intellectual disability, autism spectrum disorder, childhood apraxia of speech, cerebellar hypoplasia and mild dysmorphic features. |
2023-08-22 |
2023-09-07 |
Not clear |
| Dorinde Korteling, Jiska L I Musch, Janneke R Zinkstok, Erik Boo. Psychiatric and neurological manifestations in adults with Smith-Magenis syndrome: A scoping review. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2023-08-16. PMID:37584268. |
neuropsychiatric manifestations in adults with sms include intellectual disability, autism spectrum- and attention deficit hyperactivity disorder-related features, self-injurious and physical aggressive behaviors, sleep-wake disorders, and seizures. |
2023-08-16 |
2023-09-07 |
Not clear |
| Christopher H Thompson, Franck Potet, Tatiana V Abramova, Jean-Marc DeKeyser, Nora F Ghabra, Carlos G Vanoye, John J Millichap, Alfred L Georg. Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties. The Journal of general physiology. vol 155. issue 10. 2023-08-14. PMID:37578743. |
scn2a is also a high-confidence risk gene for autism spectrum disorder (asd) and nonsyndromic intellectual disability (id). |
2023-08-14 |
2023-08-16 |
Not clear |
| K A Smolen, C M Papke, M R Swingle, A Musiyenko, C Li, E A Salter, A D Camp, R E Honkanen, A N Kettenbac. Quantitative proteomics and phosphoproteomics of PP2A-PPP2R5D variants reveal deregulation of RPS6 phosphorylation via converging signaling cascades. The Journal of biological chemistry. 2023-08-12. PMID:37572851. |
genetic germline variants of ppp2r5d (encoding: phosphoprotein phosphatase-2 regulatory protein-5d) result in ppp2r5d-related disorder (jordan's syndrome), which is characterized by intellectual disability, hypotonia, seizures, macrocephaly, autism spectrum disorder, and delayed motor skill development. |
2023-08-12 |
2023-08-16 |
Not clear |
| Huanzheng Li, Qian Zhang, Ru Wan, Lili Zhou, Xueqin Xu, Chenyang Xu, Yuan Yu, Yunzhi Xu, Yanbao Xiang, Shaohua Tan. PLPPR4 haploinsufficiency causes neurodevelopmental disorders by disrupting synaptic plasticity via mTOR signalling. Journal of cellular and molecular medicine. 2023-08-08. PMID:37550884. |
in this study, we report three unrelated patients with intellectual disability (id) or autism spectrum disorder (asd) who harbour a de novo heterozygous copy number loss of plppr4 in 1p21.2p21.3, a heterozygous nonsense mutation in plppr4 (nm_014839, c.4c > t, p.gln2*) and a homozygous splice mutation in plppr4 (nm_014839: c.408 + 2 t > c), respectively. |
2023-08-08 |
2023-08-14 |
Not clear |
| Rebecca E Ruggiero-Ruff, Pedro A Villa, Sarah Abu Hijleh, Bryant Avalos, Nicholas V DiPatrizio, Sachiko Haga-Yamanaka, Djurdjica Cos. Increased body weight in mice with fragile X messenger ribonucleoprotein 1 (Fmr1) gene mutation is associated with hypothalamic dysfunction. Scientific reports. vol 13. issue 1. 2023-08-04. PMID:37542065. |
mutations in the fragile x messenger ribonucleoprotein 1 (fmr1) gene are linked to fragile x syndrome, the most common monogenic cause of intellectual disability and autism. |
2023-08-04 |
2023-08-14 |
mouse |
| Zhigang Liu, Baozhong Xin, Iris N Smith, Valerie Sency, Julia Szekely, Anna Alkelai, Alan Shuldiner, Stephanie Efthymiou, Farrah Rajabi, Stephanie Coury, Catherine A Brownstein, Sabine Rudnik-Schöneborn, Ange-Line Bruel, Julien Thevenon, Shimriet Zeidler, Parul Jayakar, Axel Schmidt, Kirsten Cremer, Hartmut Engels, Sophia O Peters, Maha S Zaki, Ruizhi Duan, Changlian Zhu, Yiran Xu, Chao Gao, Tania Sepulveda-Morales, Reza Maroofian, Issam A Alkhawaja, Mariam Khawaja, Hunaida Alhalasah, Henry Houlden, Jill A Madden, Valentina Turchetti, Dana Marafi, Pankaj B Agrawal, Ulrich Schatz, Ari Rotenberg, Joshua Rotenberg, Grazia M S Mancini, Somayeh Bakhtiari, Michael Kruer, Isabelle Thiffault, Steffen Hirsch, Maja Hempel, Lara G Stühn, Tobias B Haack, Jennifer E Posey, James R Lupski, Hyunpil Lee, Nicholas B Sarn, Charis Eng, Claudia Gonzaga-Jauregui, Bin Zhang, Heng Wan. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability, and autistic features. Human molecular genetics. 2023-08-02. PMID:37531237. |
this disorder is characterized by developmental delay, mild intellectual disability, neurobehavioral issues such as autism spectrum disorder, seizures, and other neurological findings including tone, gait, and cerebellar abnormalities. |
2023-08-02 |
2023-08-14 |
Not clear |
| Silvia Boeri, Marcello Scala, Francesca Madia, Francesca Perucco, Diego Vozzi, Valeria Capra, Federico Zara, Lino Nobili, Maria Margherita Mancard. MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy. Epileptic disorders : international epilepsy journal with videotape. 2023-07-31. PMID:37518898. |
genetic variants in the myt1l are associated with a range of developmental disorders, including intellectual disability, autism spectrum disorder, facial dysmorphisms, and epilepsy. |
2023-07-31 |
2023-08-14 |
Not clear |
| Evangeline C Kurtz-Nelson, Hannah M Rea, Aiva C Petriceks, Caitlin M Hudac, Tianyun Wang, Rachel K Earl, Raphael A Bernier, Evan E Eichler, Emily Neuhau. Characterizing the autism spectrum phenotype in DYRK1A-related syndrome. Autism research : official journal of the International Society for Autism Research. 2023-07-27. PMID:37497568. |
likely gene-disrupting (lgd) variants in dyrk1a are causative of dyrk1a syndrome and associated with autism spectrum disorder (asd) and intellectual disability (id). |
2023-07-27 |
2023-08-14 |
human |
| Yu-Shan Chen, Jing Dong, Wei Tan, Hui Liu, Si-Ming Zhang, Jia Zou, Yi-Qi Chen, Shu-Yan Bai, Yan Zen. The potential role of ribonucleic acid methylation in the pathological mechanisms of fragile X syndrome. Behavioural brain research. 2023-07-19. PMID:37467965. |
fragile x syndrome (fxs) is a common inherited cause of intellectual disabilities and single-gene cause of autism spectrum disorder (asd), resulting from the loss of functional fragile x messenger ribonucleoprotein (fmrp), an rna-binding protein (rbp) encoded by the fragile x messenger ribonucleoprotein 1 (fmr1) gene. |
2023-07-19 |
2023-08-14 |
Not clear |
| Z Lam, E Wall, G Ryan, R Barber, M D Kilby, D K William. Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies. Prenatal diagnosis. 2023-07-06. PMID:37409888. |
the disorder is characterised by developmental delay, intellectual disability, autism spectrum disorder, epilepsy, mental health conditions, and significant feeding difficulties, predominantly, but not exclusively, affecting males. |
2023-07-06 |
2023-08-14 |
Not clear |
| Wentong Hong, Pifang Gong, Xinjie Pan, Yitong Liu, Guibo Qi, Congcong Qi, Song Qi. Krüppel-like factor 7 deficiency disrupts corpus callosum development and neuronal migration in the developing mouse cerebral cortex. Brain pathology (Zurich, Switzerland). 2023-07-04. PMID:37401095. |
mutations in klf7 are associated with autism spectrum disorder, which is characterized by neurodevelopmental delay and intellectual disability. |
2023-07-04 |
2023-08-14 |
mouse |
| Guillaume Cogan, Nicolas Bourgon, Roxana Borghese, Emmanuel Julien, Aurélia Jaquette, Bertrand Stos, Amale Achaiaa, Sophie Chuon, Patrick Nitschke, Cécile Fourrage, Julien Stirnemann, Lucile Boutaud, Tania Attie-Bitac. Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs. Molecular genetics & genomic medicine. 2023-06-24. PMID:37353886. |
patients with this syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly, short stature, autism, epilepsy, visual and hearing impairments, feeding problems, upper airway infections, scoliosis, and/or kyphosis. |
2023-06-24 |
2023-08-14 |
Not clear |
| Muhaned S Mohamed, Eric Klan. Autism- and epilepsy-associated bioRxiv : the preprint server for biology. 2023-06-19. PMID:37333416. |
here, we describe our investigations of a neuron- and muscle-specific translation factor, e ukaryotic e longation f actor 1a2 (eef1a2), which when mutated in patients results in autism, epilepsy, and intellectual disability. |
2023-06-19 |
2023-08-14 |
Not clear |
| Miguel Sabariego-Navarro, Álvaro Fernández-Blanco, Cesar Sierra, Mara Diersse. Neurodevelopmental disorders: 2022 update. Free neuropathology. vol 3. 2023-06-07. PMID:37284163. |
with a prevalence of 2-4% of the worldwide population, neurodevelopmental disorders (ndds) comprise a heterogeneous group of disorders associated with neurodevelopmental dysfunction, including intellectual disability (id), autism spectrum disorder (asd), down syndrome (ds) and attention-deficit/hyperactivity disorder (adhd) among others. |
2023-06-07 |
2023-08-14 |
Not clear |
| Alshaimaa Alzahrani, Maha Alshalan, Mohammed Alfurayh, Abdulaziz Bin Akrish, Najlaa A Alsubeeh, Fuad Al Mutair. Case Report: Clinical delineation of Frontiers in neurology. vol 14. 2023-05-01. PMID:37122292. |
case report: clinical delineation of calcium ions are involved in several human cellular processes; nevertheless, the relationship between calcium channelopathies (ccs) and autism spectrum disorder (asd) or intellectual disability (id) has been previously investigated. |
2023-05-01 |
2023-08-14 |
human |
| Daryl Efron, Kaitlyn Taylo. Medicinal Cannabis for Paediatric Developmental, Behavioural and Mental Health Disorders. International journal of environmental research and public health. vol 20. issue 8. 2023-04-28. PMID:37107712. |
studies of medicinal cannabis are planned or underway for children and/or adolescents with autism, intellectual disability, tourette's syndrome, anxiety, psychosis, anorexia nervosa and a number of specific neurodevelopmental syndromes. |
2023-04-28 |
2023-08-14 |
Not clear |
| Michael Shokhen, Randall Walikonis, Vladimir N Uversky, Amnon Allbeck, Camryn Zezelic, Danielle Feldman, Nina S Levy, Andrew P Lev. Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2. Journal of biomolecular structure & dynamics. 2023-04-20. PMID:37078745. |
iqsec2 gene mutations are associated with epilepsy, autism, and intellectual disability. |
2023-04-20 |
2023-08-14 |
human |
| Allain-Thibeault Ferhat, Elisabeth Verpy, Anne Biton, Benoît Forget, Fabrice De Chaumont, Florian Mueller, Anne-Marie Le Sourd, Sabrina Coqueran, Julien Schmitt, Christelle Rochefort, Laure Rondi-Reig, Aziliz Leboucher, Anne Boland, Bertrand Fin, Jean-François Deleuze, Tobias M Boeckers, Elodie Ey, Thomas Bourgero. Excessive self-grooming, gene dysregulation and imbalance between the striosome and matrix compartments in the striatum of Frontiers in molecular neuroscience. vol 16. 2023-04-03. PMID:37008785. |
mutations in the gene encoding the synaptic scaffolding protein shank3 are detected in 1-2% of patients with autism and intellectual disability, but the mechanisms underpinning the symptoms remain largely unknown. |
2023-04-03 |
2023-08-14 |
Not clear |
| Wenting Zhuang, Tong Ye, Wei Wang, Weihong Song, Tao Ta. CTNNB1 in neurodevelopmental disorders. Frontiers in psychiatry. vol 14. 2023-04-03. PMID:37009120. |
recently, ctnnb1 has also been found involved in neurodevelopmental disorders (ndds), such as intellectual disability, autism, and schizophrenia. |
2023-04-03 |
2023-08-14 |
Not clear |