Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.TRIAL REGISTRATION: Not applicable.PMID:38409029 | DOI:10.1186/s13023-023-02994-x (Source: Epilepsy Curr)
Source: Epilepsy Curr - February 26, 2024 Category: Neurology Authors: S Amin B Ruban-Fell I Newell J Evans K Vyas C Nortvedt R F Chin Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.TRIAL REGISTRATION: Not applicable.PMID:38409029 | PMC:PMC10895812 | DOI:10.1186/s13023-023-02994-x (Source: Epilepsy Curr)
Source: Epilepsy Curr - February 26, 2024 Category: Neurology Authors: S Amin B Ruban-Fell I Newell J Evans K Vyas C Nortvedt R F Chin Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.TRIAL REGISTRATION: Not applicable.PMID:38409029 | PMC:PMC10895812 | DOI:10.1186/s13023-023-02994-x (Source: Epilepsy Curr)
Source: Epilepsy Curr - February 26, 2024 Category: Neurology Authors: S Amin B Ruban-Fell I Newell J Evans K Vyas C Nortvedt R F Chin Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.TRIAL REGISTRATION: Not applicable.PMID:38409029 | PMC:PMC10895812 | DOI:10.1186/s13023-023-02994-x (Source: Epilepsy Curr)
Source: Epilepsy Curr - February 26, 2024 Category: Neurology Authors: S Amin B Ruban-Fell I Newell J Evans K Vyas C Nortvedt R F Chin Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
Rett syndrome (RTT) and tuberous sclerosis complex (TSC) are two rare disorders presenting with a range of different epileptic seizures. Seizure management requires careful therapy selection, thereby necessita... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 26, 2024 Category: Internal Medicine Authors: S. Amin, B. Ruban-Fell, I. Newell, J. Evans, K. Vyas, C. Nortvedt and R. F. Chin Tags: Review Source Type: research
Tuberous sclerosis, a case of multiple organ involvement is reported
Asian J Surg. 2024 Feb 19:S1015-9584(24)00204-5. doi: 10.1016/j.asjsur.2024.01.150. Online ahead of print.NO ABSTRACTPMID:38378433 | DOI:10.1016/j.asjsur.2024.01.150 (Source: Asian Journal of Surgery)
Source: Asian Journal of Surgery - February 20, 2024 Category: Surgery Authors: Kai-Yun Mao Yuan-Chao Cao Zhi-Xian Tang Shen-Yu Zhu Source Type: research
Tuberous sclerosis, a case of multiple organ involvement is reported
Asian J Surg. 2024 Feb 19:S1015-9584(24)00204-5. doi: 10.1016/j.asjsur.2024.01.150. Online ahead of print.NO ABSTRACTPMID:38378433 | DOI:10.1016/j.asjsur.2024.01.150 (Source: Asian Journal of Surgery)
Source: Asian Journal of Surgery - February 20, 2024 Category: Surgery Authors: Kai-Yun Mao Yuan-Chao Cao Zhi-Xian Tang Shen-Yu Zhu Source Type: research
Hyperactive mTORC1 in lung mesenchyme induces endothelial cell dysfunction and pulmonary vascular remodeling
Lymphangioleiomyomatosis (LAM) is a progressive cystic lung disease caused by tuberous sclerosis complex 1/2 (TSC1/2) gene mutations in pulmonary mesenchymal cells, resulting in activation of the mechanistic target of rapamycin complex 1 (mTORC1). A subset of patients with LAM develop pulmonary vascular remodeling and pulmonary hypertension. Little, however, is known regarding how LAM cells communicate with endothelial cells (ECs) to trigger vascular remodeling. In end-stage LAM lung explants, we identified EC dysfunction characterized by increased EC proliferation and migration, defective angiogenesis, and dysmorphic endo...
Source: Journal of Clinical Investigation - February 15, 2024 Category: Biomedical Science Authors: Susan M. Lin, Ryan Rue, Alexander R. Mukhitov, Akansha Goel, Maria C. Basil, Kseniya Obraztsova, Apoorva Babu, Slaven Crnkovic, Owen A. Ledwell, Laura T. Ferguson, Joseph D. Planer, Ana N. Nottingham, Kanth Swaroop Vanka, Carly J. Smith, Edward Cantu III, Source Type: research
Identification of hub genes significantly linked to tuberous sclerosis related-epilepsy and lipid metabolism via bioinformatics analysis
ConclusionsOur research unveiled potential DELMRGs (ALOX12B, CBS, CPT1C and DAGLB) in TSE, which may provide new ideas for studying the psathogenesis of epilepsy. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - February 14, 2024 Category: Neurology Source Type: research
Prevention of epileptogenesis - are we there yet?
Curr Opin Neurol. 2024 Feb 13. doi: 10.1097/WCO.0000000000001256. Online ahead of print.ABSTRACTPURPOSE OF REVIEW: To review recent progress in preventing epileptogenesis in patients with epilepsy.RECENT FINDINGS: The recent success of epilepsy prevention and disease modification in tuberous sclerosis using simple EEG biomarkers to guide treatment initiation, and the identification of biomarkers to enrich the targeted patient population has made clinical trials of epilepsy prevention after acquired central nervous system (CNS) insults such as traumatic brain injury, stroke or infection both feasible and timely. Two such tr...
Source: Epilepsy Curr - February 12, 2024 Category: Neurology Authors: Matthias Koepp Eugen Trinka Wolfgang L öscher Pavel Klein Source Type: research
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
