Chronic Rapamycin Prevents Electrophysiological and Morphological Alterations Produced by Conditional Pten Deletion in Mouse Cortex by Jason S. Hauptman, Joseph Antonios, Gary W. Mathern, Michael S. Levine, Carlos Cepeda

“…These findings have potential implications for the treatment of neurological disorders associated with mTOR pathway dysfunction, such as epilepsy and autism.…”
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Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1 by Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert

“…We describe two brothers who presented at birth with bone growth abnormalities, followed by development of increasingly severe intellectual and physical disability, growth restriction, epilepsy, and cerebellar and brain stem atrophy, but normal ocular phenotypes. …”
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Protective effects of wogonin in the treatment of central nervous system and degenerative diseases by Qingan Fu, Qingyun Yu, Hongdan Luo, Zhekang Liu, Xiaowei Ma, Huijian Wang, Zhijuan Cheng

“…This review elucidates the pharmacological mechanisms underlying the protective effects of wogonin in CNS diseases, including ischemic stroke, hemorrhagic stroke, traumatic brain injury, epilepsy, anxiety, neurodegenerative diseases, and CNS infections. …”
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Development of cohort definitions and algorithms to identify patients with Lennox-Gastaut syndrome or Dravet syndrome from real-world administrative healthcare databases by Drishti Shah, Victoria Divino, Justin Chen, Arturo Benitez, Jeannine Roth, J. Scott Andrews

“…The country-specific definitions for all 3 approaches (specific diagnostic codes, ASM indicated for LGS or DS only, and broader epilepsy diagnostic codes) were refined further using consensus from the physician interviews. …”
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Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys) by Emma L Prehn, Mairéad Crowley, David Fennell, Brendan T Kinsley, Kevin Colclough, Maria M Byrne

“…She also had polycystic ovarian syndrome, hypothyroidism and epilepsy. Metformin was changed to insulin with good glycaemic control throughout pregnancy. …”
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Regulation of MAP2, GFAP, and calcium in the CA3 Region Following Kainic Acid Exposure to  organotypic hippocampal slice culture [version 3; peer review: 2 approved] by Aulanni'am Aulanni'am, Kusworini Handono, Ettie Rukmigarsari, Hidayat Sujuti, Machlusil Husna

“…Background Neurodegeneration due to neurotoxicity is one of the phenomena in temporal lobe epilepsy. Experimentally, hippocampal excitotoxicity process can occur due to kainic acid exposure, especially in the CA3 area. …”
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Viral encephalitis and seizures cause rapid depletion of neuronal progenitor cells and alter neurogenesis in the adult mouse dentate gyrus by Alberto Pauletti, Polina Gurlo, Edna Weiß, Ana Beatriz DePaula-Silva, Karen S. Wilcox, Sonja Bröer

“…Infections impacting the central nervous system (CNS) constitute a substantial predisposing factor for the emergence of epileptic seizures. Given that epilepsy conventionally correlates with hippocampal sclerosis and neuronal degeneration, a potentially innovative avenue for therapeutic intervention involves fostering adult neurogenesis, a process primarily occurring within the subgranular zone of the dentate gyrus (DG) through the differentiation of neural stem cells (NSC). …”
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An experimental study of the effects of SNPs in the TATA boxes of the <i>GRIN1, ASCL3</i> and <i>NOS1</i> genes on interactions with the TATA-binding protein by E. B. Sharypova, I. A. Drachkova, I. V. Chadaeva, M. P. Ponomarenko, L. K. Savinkova

“…For instance, these genes contribute to the development of schizophrenia, Alzheimer’s and Parkinson’s diseases, and epilepsy. These genes are also associated with various cancers. …”
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Deep learning based tractography with TractSeg in patients with hemispherotomy: Evaluation and refinement by Johannes Gruen, Tobias Bauer, Theodor Rüber, Thomas Schultz

“…We explore the limits of TractSeg by evaluating it on a unique dataset of 25 patients with epilepsy who underwent hemispherotomy, a type of surgery in which the two hemispheres are surgically separated. …”
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Fecal Microbiota Transplantation: A New Therapeutic Attempt from the Gut to the Brain by Hao-Ming Xu, Hong-Li Huang, You-Lian Zhou, Hai-Lan Zhao, Jing Xu, Di-Wen Shou, Yan-Di Liu, Yong-Jian Zhou, Yu-Qiang Nie

“…We have reviewed the latest research on the role of gut microbiota in different nervous system diseases as well as FMT in the context of its application in neurological, psychiatric, and other nervous system-related diseases (Parkinson’s disease, Alzheimer’s disease, multiple sclerosis, epilepsy, autism spectrum disorder, bipolar disorder, hepatic encephalopathy, neuropathic pain, etc.).…”
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Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes by Yukiko Kikuchi, Mohammed Uddin, Joris A. Veltman, Sara Wells, Christopher Morris, Marc Woodbury-Smith

“…Constraint was also observed across genes associated with intellectual disability (p = 1.1 × 10− 46), epilepsy (p = 2.1 × 10− 33) and schizophrenia (p = 4.2 × 10− 45), and for an overlapping neurodevelopmental gene set (p = 4.0 × 10− 10). …”
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How does health literacy associated to bio-behavioral and psycho-social outcomes among hemodialysis patients? A systematic review by Leila Zhianfar, Haidar Nadrian, Zeinab Javadivala, Sarisa Najafi, Shayesteh Shirzadi, Kamyar Pirehbabi, Ozra Honarpazhouh, Somayeh Azimi, Tahyebeh Shirvani, Sakineh Haj Ebrahimi, Devender Bhalla

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Clinical code usage in UK general practice: a cohort study exploring 18 conditions over 14 years by Christos Grigoroglou, Darren M Ashcroft, Evangelos Kontopantelis, David Reeves, Salwa S Zghebi, Rosa Parisi, Brian McMillan

“…Objective To assess the diagnostic Read code usage for 18 conditions by examining their frequency and diversity in UK primary care between 2000 and 2013.Design Population-based cohort studySetting 684 UK general practices contributing data to the Clinical Practice Research Datalink (CPRD) GOLD.Participants Patients with clinical codes for at least one of asthma, chronic obstructive pulmonary disease, diabetes, hypertension (HT), coronary heart disease, atrial fibrillation (AF), heart failure, stroke, hypothyroidism, chronic kidney disease, learning disability (LD), depression, dementia, epilepsy, severe mental illness (SMI), osteoarthritis, osteoporosis and cancer.Primary and secondary outcome measures For the frequency ranking of clinical codes, canonical correlation analysis was applied to correlations of clinical code usage of 1, 3 and 5 years. …”
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Parametrization of the dying brain: A case report from ICU bed-side EEG monitoring by Sebastian Zinn, Srdjan Z. Dragovic, Jan A. Kloka, Laurent M. Willems, Sebastian Harder, Stephan Kratzer, Kai D. Zacharowski, Gerhard Schneider, Paul S. García, Matthias Kreuzer

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Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report by Aya Kawasaki, MD, Hidefumi Tonoki, MD, PhD, Osamu Sasaki, MD, PhD, Yoko Matsushita, MD, PhD, Michiko Watari, MD, PhD, Nobuhiro Takahashi, MD, Satoko Fujieda, MD

“…Multiple fetal cardiac tumors were detected on ultrasonography at 24 weeks, gestation with no other manifestation. Neither epilepsy nor mental retardation was seen after birth. …”
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Use of Complementary and Alternative Medicine Practices in Patients Admitted to The Pediatric Neurology Outpatient Clinic by Deniz Yüksel, Ergin Atasoy, Ülkühan Öztoprak, Erhan Aksoy, Fatih Mehmet Akif Özdemir, Halil Celik, Nesrin Ceylan

“…Just over half (55.3%) of the patients were followed up with a diagnosis of epilepsy, 56.6% of the parents stated that they had used traditional and complementary therapy methods before, 43.4% stated that they did not use it, 46.54% stated that they used prayer and 23,9% used vitamin methods, respectively. …”
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Metabolites derived from medicinal plants modulating voltage-gated sodium channel activity: A systematic review by José Luis Estela-Zape, Mayra Liliana Pizarro-Loaiza, Gabriel Arteaga, Santiago Castaño, Leonardo Fierro

“…Dysfunction of these channels is associated with neurological disorders such as epilepsy, neuropathic pain, and myopathies. Although plant-derived compounds have shown promise in modulating Nav channels, the molecular mechanisms remain insufficiently understood. …”
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Role of apoptosis genes in aggression revealed using combined analysis of ANDSystem gene networks, expression and genomic data in grey rats with aggressive behavior by A. O. Bragin, O. V. Saik, I. V. Chadaeva, P. S. Demenkov, A. L. Markel, Yu. L. Orlov, E. I.  Rogaev, I. N. Lavrik, V. A. Ivanisenko

“…Alterations in neuronal apoptosis are observed in aging and neuropathologies accompanied by changes in psycho­emo­ tional state (epilepsy, Alzheimer’s disease, neurotrauma). The expression of key neuronal apoptosis genes (Casp3, Bax and Bcl-xl) in the brain of highly aggressive rats is significantly altered. …”
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Multi-channel spatio-temporal graph attention contrastive network for brain disease diagnosis by Chaojun Li, Kai Ma, Shengrong Li, Xiangshui Meng, Ran Wang, Daoqiang Zhang, Qi Zhu

“…Finally, a multi-layer perceptron (MLP) is used to classify the brain networks. Experiments on epilepsy and ADNI datasets show that our method outperforms several state-of-the-art approaches in diagnosing performance, and it provides discriminative graph features for related brain diseases.…”
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Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation by Muhammed Riyas K. Rahmath, Haytham Ibrahim, Muhammad Faiyaz-Ul-Haque, Zafar Nawaz, Ahmad Zitoun, Ahmed Hussein, Ahmed Sadek, Ayman El-Menyar, Reema Kamal, Hassan Al-Thani, Gulab Sher

“…Furthermore, rare features previously documented in a limited number of patients, including leg length discrepancy, epilepsy, and migraine headaches, were also observed in our cohort. …”
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