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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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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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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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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Marigold: a machine learning-based web app for zebrafish pose tracking by Gregory Teicher, R. Madison Riffe, Wayne Barnaby, Gabrielle Martin, Benjamin E. Clayton, Josef G. Trapani, Gerald B. Downes

“…Abstract Background High-throughput behavioral analysis is important for drug discovery, toxicological studies, and the modeling of neurological disorders such as autism and epilepsy. Zebrafish embryos and larvae are ideal for such applications because they are spawned in large clutches, develop rapidly, feature a relatively simple nervous system, and have orthologs to many human disease genes. …”
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Impact of pathogenic mutations of the GLUT1 glucose transporter on solute carrier dynamics using ComDYN enhanced sampling [version 2; peer review: 2 approved, 1 approved with reser... by K. Anton Feenstra, Akiko Higuchi, Kei Yura, Sanne Abeln, Halima Mouhib

“…Several pathogenic mutations are reported in the glucose transporter subfamily SLC2, causing Glut1-deficiency syndrome (GLUT1DS1, GLUT1DS2), epilepsy (EIG2) and cryohydrocytosis with neurological defects (Dystonia-9). …”
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A False Case of Clozapine-Resistant Schizophrenia by J. P. Maia-de-Oliveira, J. P. Pinto, V. Alexandre, J. P. Machado-de-Sousa, S. L. Morais, C. Chaves, A. C. Sakamoto, A. W. Zuardi, J. A. S. Crippa, J. E. Hallak

“…A case of psychosis secondary to epilepsy had been treated as schizophrenia for almost 20 years. …”
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Hubungan Pemakaian Fenobarbital Rutin dan Tidak Rutin Pada Anak Kejang Demam dengan Attention Deficit Hyperactivity Disorder (ADHD) by Sara Fadila, Nadjmir ., Rahmatini .

“…<p>Abstrak<br />Kejang demam akan berulang 62,2% serta memiliki tingkat kejadian epilepsi 2-5%. Oleh karena itu dibutuhkan pengobatan yang adekuat untuk mencegah terjadi kejang demam dengan pemberian fenobarbital rutin setiap hari selama 1-2 tahun. …”
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Prevalence of communicable, non-communicable diseases, disabilities and related risk factors in Khyber Pakhtunkhwa Pakistan: Findings from the Khyber Pakhtunkhwa Integrated Populat... by Ziaul Haq, Saima Afaq, Muhammad Ibrahim, Zala, Muhammad Asim

“…<h4>Objectives</h4>The objective of this study was to present the demographic characteristics and the burden of locally-specific CDs (hepatitis B and C, TB, AIDS), NCDs (diabetes, renal diseases, asthma, epilepsy, coronary heart diseases, cancer, hypertension, cholesterol, thalassemia), and disabilities (congenital, post-disease, post-injury, paralysis) stratified by sex, age and setting in the Khyber Pakhtunkhwa province of Pakistan.…”
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Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia by Jessica Obst, Fabian N. Fries, Maryam Amini, Annamária Náray, Cristian Munteanu, Tanja Stachon, Shweta Suiwal, Neil Lagali, Berthold Seitz, Barbara Käsmann-Kellner, Nóra Szentmáry

“…Systemic diseases were detected in 155 of 337 (46%) patients, with the most common being obesity (29 [8.6%]), thyroid disease (28 [8.3%]), hypertension (26 [7.7%]), intellectual disability (22 [6.5%]), diabetes mellitus (19 [5.6%]), auditory perception disorder/speech development delay (16 [4.7%]), and epilepsy (12 [3.6%]). Conclusions A comprehensive analysis of patients with aniridia and systemic effects reveals the complexity of this rare disorder, which goes beyond ocular symptoms and can have profound effects on metabolic balance, cardiovascular health, and the central nervous system. …”
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αAsarone alleviates neuronal injury by facilitating autophagy via miR-499-5p/PDCD4/ATG5 signaling pathway in ischemia stroke by Yonghuan Yan, Linfang Wu, Lu Wang, Dandan Wang, Mengting Huang, Jinyong Peng, Jinyong Peng, Yingying Huang, Yingying Huang, Yingying Huang

“…IntroductionαAsarone, an essential oil derived from Acorus gramineus Aiton, which has been successfully used to treat epilepsy in traditional chinese medicine, and has also been reported to confer neuroprotective effects on stroke. …”
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