Publisher Correction to: Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex
J Autism Dev Disord. 2024 Feb 1. doi: 10.1007/s10803-023-06098-0. Online ahead of print.NO ABSTRACTPMID:38300505 | DOI:10.1007/s10803-023-06098-0 (Source: Journal of Autism and Developmental Disorders)
Source: Journal of Autism and Developmental Disorders - February 1, 2024 Category: Psychiatry Authors: Banu Ahtam Hyuk Jin Yun Rutvi Vyas Rudolph Pienaar Josephine H Wilson Caroline P Goswami Laura F Berto Simon K Warfield Mustafa Sahin P Ellen Grant Jurriaan M Peters Kiho Im Source Type: research
Altered expression of the Plexin-B2 system in tuberous sclerosis complex and focal cortical dysplasia IIb lesions
In conclusion, our results showed the Plexin-B2-Sema4C system was abnormally expressed in cortical lesions of TSC and FCD IIb patients, signifying that the Plexin-B2-Sema4C system may play a role in the pathogenic development of TSC and FCD IIb.PMID:38293776 | DOI:10.14670/HH-18-707 (Source: Histology and Histopathology)
Source: Histology and Histopathology - January 31, 2024 Category: Cytology Authors: Lu Dai Jun Huang Kai-Feng Shen Xiao-Lin Yang Gang Zhu Li Zhang Zhong-Ke Wang Shi-Yong Liu Xiang Liao Sen-Lin Xu Hui Yang Xing-Yi Li Chun-Qing Zhang Source Type: research
Amelioration of the brain structural connectivity is accompanied with changes of gut microbiota in a tuberous sclerosis complex mouse model
Translational Psychiatry, Published online: 31 January 2024; doi:10.1038/s41398-024-02752-yAmelioration of the brain structural connectivity is accompanied with changes of gut microbiota in a tuberous sclerosis complex mouse model (Source: Translational Psychiatry)
Source: Translational Psychiatry - January 31, 2024 Category: Psychiatry Authors: Christine Chin-jung Hsieh Yu-Chun Lo Hsin-Hui Wang Hsin-Ying Shen You-Yin Chen Yi-Chao Lee Source Type: research
The science of uncertainty guides fetal-neonatal neurology principles and practice: diagnostic-prognostic opportunities and challenges
Fetal-neonatal neurologists (FNNs) consider diagnostic, therapeutic, and prognostic decisions strengthened by interdisciplinary collaborations. Bio-social perspectives of the woman’s health influence evaluations of maternal-placental-fetal (MPF) triad, neonate, and child. A dual cognitive process integrates “fast thinking-slow thinking” to reach shared decisions that minimize bias and maintain trust. Assessing the science of uncertainty with uncertainties in science improves diagnostic choices across the developmental-aging continuum. Three case vignettes highlight challenges that illustrate this approach. The first ...
Source: Frontiers in Neurology - January 30, 2024 Category: Neurology Source Type: research
Efficacy and safety of six new antiseizure medications for adjunctive treatment of focal epilepsy and epileptic syndrome: A systematic review and network meta-analysis
CONCLUSIONS: This NMA indicated that the most effective treatment strategy for focal epilepsy, DS, Lennox-Gastaut syndrome, and TSC, respectively, included CBM 300 mg, FFM, CBD, and ELM. However, the aforementioned findings need further confirmation.PMID:38277848 | DOI:10.1016/j.yebeh.2024.109653 (Source: Epilepsy and Behaviour)
Source: Epilepsy and Behaviour - January 26, 2024 Category: Neurology Authors: Jingyi Tong Tingting Ji Ting Liu Jiaqi Liu Yibin Chen Zongjun Li Na Lu Qifu Li Source Type: research
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
ConclusionsIn this study, we demonstrate the utility of genome sequencing for the identification of complex chromosomal rearrangement. Because the breakpoints are located within the deep intronic/intergenic region, this copy-neutral variant was missed by theTSC1 andTSC2 single-gene tests and contributed to an unknown etiology. Together, this finding suggests that complex structural variants may be underestimated causes for the etiology of TSC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 25, 2024 Category: Genetics & Stem Cells Authors: Seung Woo Ryu,
Ji ‐Hee Yoon,
Dong‐wook Kim,
Beomman Han,
Heonjong Han,
Joohyun Han,
Hane Lee,
Go Hun Seo,
Beom Hee Lee Tags: CLINICAL REPORT Source Type: research
Autism Observation Scale for Infants: Systematic Review and Meta-Analysis in Samples at Increased Likelihood of Autism Spectrum Disorders
AbstractThe Autism Observation Scale for Infants (AOSI) is being applied to non infant sibling populations. Assessment of the tool ’s utility across increased likelihood (IL) populations is therefore needed. A systematic review and meta-analysis was conducted on 17 studies identified from six databases. The AOSI has been used in four IL contexts: infant siblings, infants with Fragile X Syndrome, Tuberous Sclerosis Complex, an d Down Syndrome. There were three main findings: (1) five studies report classification data though no consistent approach was used; (2) group differences between IL-ASD, IL non-ASD, and controls st...
Source: Review Journal of Autism and Developmental Disorders - January 18, 2024 Category: Child Development Source Type: research
Early development of the Tsc1 Purkinje cell specific mouse knockouts
Acta Neurobiol Exp (Wars). 2023 Dec 12;83(4):404-413. doi: 10.55782/ane-2023-2472.ABSTRACTTsc1 is a gene which expression results in hamartin, a protein involved in regulation of the mTOR1 pathway. Inactivation of Tsc1 gives rise to hyperactivation of the mTOR1 machinery, increased proliferation and growth of cells with subsequent cell degeneration and cell death. In humans, mutations of Tsc1 result in an inherited disorder ‑ tuberous sclerosis complex (TSC) with the concomitant multiorgan non‑malignant tumors (tubers), epileptic seizures and autistic‑like manifestations. General mouse knock‑outs, homozygous for th...
Source: Acta Neurobiologiae Experimentalis - January 15, 2024 Category: Neurology Authors: Anna S ługocka Marta Anna Przyby ła Jaros ław Jerzy Barski Source Type: research
Early development of the Tsc1 Purkinje cell specific mouse knockouts
Acta Neurobiol Exp (Wars). 2023 Dec 12;83(4):404-413. doi: 10.55782/ane-2023-2472.ABSTRACTTsc1 is a gene which expression results in hamartin, a protein involved in regulation of the mTOR1 pathway. Inactivation of Tsc1 gives rise to hyperactivation of the mTOR1 machinery, increased proliferation and growth of cells with subsequent cell degeneration and cell death. In humans, mutations of Tsc1 result in an inherited disorder ‑ tuberous sclerosis complex (TSC) with the concomitant multiorgan non‑malignant tumors (tubers), epileptic seizures and autistic‑like manifestations. General mouse knock‑outs, homozygous for th...
Source: Acta Neurobiologiae Experimentalis - January 15, 2024 Category: Neurology Authors: Anna S ługocka Marta Anna Przyby ła Jaros ław Jerzy Barski Source Type: research
Early development of the Tsc1 Purkinje cell specific mouse knockouts
Acta Neurobiol Exp (Wars). 2023 Dec 12;83(4):404-413. doi: 10.55782/ane-2023-2472.ABSTRACTTsc1 is a gene which expression results in hamartin, a protein involved in regulation of the mTOR1 pathway. Inactivation of Tsc1 gives rise to hyperactivation of the mTOR1 machinery, increased proliferation and growth of cells with subsequent cell degeneration and cell death. In humans, mutations of Tsc1 result in an inherited disorder ‑ tuberous sclerosis complex (TSC) with the concomitant multiorgan non‑malignant tumors (tubers), epileptic seizures and autistic‑like manifestations. General mouse knock‑outs, homozygous for th...
Source: Acta Neurobiologiae Experimentalis - January 15, 2024 Category: Neurology Authors: Anna S ługocka Marta Anna Przyby ła Jaros ław Jerzy Barski Source Type: research
Early development of the Tsc1 Purkinje cell specific mouse knockouts
Acta Neurobiol Exp (Wars). 2023 Dec 12;83(4):404-413. doi: 10.55782/ane-2023-2472.ABSTRACTTsc1 is a gene which expression results in hamartin, a protein involved in regulation of the mTOR1 pathway. Inactivation of Tsc1 gives rise to hyperactivation of the mTOR1 machinery, increased proliferation and growth of cells with subsequent cell degeneration and cell death. In humans, mutations of Tsc1 result in an inherited disorder ‑ tuberous sclerosis complex (TSC) with the concomitant multiorgan non‑malignant tumors (tubers), epileptic seizures and autistic‑like manifestations. General mouse knock‑outs, homozygous for th...
Source: Acta Neurobiologiae Experimentalis - January 15, 2024 Category: Neurology Authors: Anna S ługocka Marta Anna Przyby ła Jaros ław Jerzy Barski Source Type: research
Early development of the Tsc1 Purkinje cell specific mouse knockouts
Acta Neurobiol Exp (Wars). 2023 Dec 12;83(4):404-413. doi: 10.55782/ane-2023-2472.ABSTRACTTsc1 is a gene which expression results in hamartin, a protein involved in regulation of the mTOR1 pathway. Inactivation of Tsc1 gives rise to hyperactivation of the mTOR1 machinery, increased proliferation and growth of cells with subsequent cell degeneration and cell death. In humans, mutations of Tsc1 result in an inherited disorder ‑ tuberous sclerosis complex (TSC) with the concomitant multiorgan non‑malignant tumors (tubers), epileptic seizures and autistic‑like manifestations. General mouse knock‑outs, homozygous for th...
Source: Acta Neurobiologiae Experimentalis - January 15, 2024 Category: Neurology Authors: Anna S ługocka Marta Anna Przyby ła Jaros ław Jerzy Barski Source Type: research
Early development of the Tsc1 Purkinje cell specific mouse knockouts
Acta Neurobiol Exp (Wars). 2023 Dec 12;83(4):404-413. doi: 10.55782/ane-2023-2472.ABSTRACTTsc1 is a gene which expression results in hamartin, a protein involved in regulation of the mTOR1 pathway. Inactivation of Tsc1 gives rise to hyperactivation of the mTOR1 machinery, increased proliferation and growth of cells with subsequent cell degeneration and cell death. In humans, mutations of Tsc1 result in an inherited disorder ‑ tuberous sclerosis complex (TSC) with the concomitant multiorgan non‑malignant tumors (tubers), epileptic seizures and autistic‑like manifestations. General mouse knock‑outs, homozygous for th...
Source: Acta Neurobiologiae Experimentalis - January 15, 2024 Category: Neurology Authors: Anna S ługocka Marta Anna Przyby ła Jaros ław Jerzy Barski Source Type: research
Early development of the Tsc1 Purkinje cell specific mouse knockouts
Acta Neurobiol Exp (Wars). 2023 Dec 12;83(4):404-413. doi: 10.55782/ane-2023-2472.ABSTRACTTsc1 is a gene which expression results in hamartin, a protein involved in regulation of the mTOR1 pathway. Inactivation of Tsc1 gives rise to hyperactivation of the mTOR1 machinery, increased proliferation and growth of cells with subsequent cell degeneration and cell death. In humans, mutations of Tsc1 result in an inherited disorder ‑ tuberous sclerosis complex (TSC) with the concomitant multiorgan non‑malignant tumors (tubers), epileptic seizures and autistic‑like manifestations. General mouse knock‑outs, homozygous for th...
Source: Acta Neurobiologiae Experimentalis - January 15, 2024 Category: Neurology Authors: Anna S ługocka Marta Anna Przyby ła Jaros ław Jerzy Barski Source Type: research
Early development of the Tsc1 Purkinje cell specific mouse knockouts
Acta Neurobiol Exp (Wars). 2023 Dec 12;83(4):404-413. doi: 10.55782/ane-2023-2472.ABSTRACTTsc1 is a gene which expression results in hamartin, a protein involved in regulation of the mTOR1 pathway. Inactivation of Tsc1 gives rise to hyperactivation of the mTOR1 machinery, increased proliferation and growth of cells with subsequent cell degeneration and cell death. In humans, mutations of Tsc1 result in an inherited disorder ‑ tuberous sclerosis complex (TSC) with the concomitant multiorgan non‑malignant tumors (tubers), epileptic seizures and autistic‑like manifestations. General mouse knock‑outs, homozygous for th...
Source: Acta Neurobiologiae Experimentalis - January 15, 2024 Category: Neurology Authors: Anna S ługocka Marta Anna Przyby ła Jaros ław Jerzy Barski Source Type: research
