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  1. 4161

    Structure–Activity Relationship Studies in a Series of 2-Aryloxy-<i>N</i>-(pyrimidin-5-yl)acetamide Inhibitors of SLACK Potassium Channels by Nigam M. Mishra, Brittany D. Spitznagel, Yu Du, Yasmeen K. Mohamed, Ying Qin, C. David Weaver, Kyle A. Emmitte

    Published 2024-11-01
    “…Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare, serious, and pharmacoresistant epileptic disorder often linked to gain-of-function mutations in the <i>KCNT1</i> gene. …”
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  2. 4162

    Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report by N. Garancini, M. Ghezzi, A. Farolfi, V. Guaia, G. Canali, V. Fabiano, G.V. Zuccotti, E. D'Auria

    Published 2025-01-01
    “…Mutations of KCNT1 gene, encoding for a sodium-gated potassium channel, are causative of a wide spectrum of epilepsies and neurodevelopmental disorders; cardiovascular involvement also seems to be significant, with cardiac arrhythmia and, less frequently, the development of Systemic to Pulmonary Collateral Arteries (SPCAs) has been reported. …”
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  3. 4163
  4. 4164

    Dev intrakranial lipom olgu sunumu ve literatürün gözden geçirilmesi by Can Yaldız, Davut Ceylan, Özlem Kıtıki Kaçıra, Tibet Kaçıra

    Published 2014-12-01
    “…En sık semptom baş ağrısıdır. Bununla birlikte epilepsi, hemipleji gözlenebilir. Bu benign karekterdeki kitlelere BBT ve kraniyal magnetik rezonans(MRG) görüntüleme ile tanı konulabilir. …”
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    Article
  5. 4165

    Proton magnetic spectroscopy agreed better with magnetic resonance image to lateralization of epileptogenic zone than with surface electroencephalography by Ricardo Andre Amorim Leite, Maria Concepcion Garcia Otaduy, Gilson Edmar Goncalves e Silva, Maria Lucia Brito Ferreira, Maria de Fatima Vasco Aragao

    Published 2013-09-01
    “…Objective To analyze the agreement rate of proton magnetic spectroscopy with magnetic resonance image (MRI) and surface electroence-phalography (EEG) in extratemporal neocortical epilepsies. Methods A cross-sectional study, type series of cases included 33 patients, age range 13–59 years old, of both gender, presenting structural alteration identified by MRI (75.8%) or by neurophysiologic techniques (72.7%). …”
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  6. 4166

    Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing. by Zainab Gaouzi, Aziza Belkhayat, Zahra Chebihi Takki, Hind Lachraf, Idrissa Diawara, Yamna Kriouile

    Published 2025-01-01
    “…WES revealed a diagnostic yield of 45%, identifying conditions such as intellectual disabilities, hereditary metabolic disorders and epilepsies. It also uncovered neurodevelopmental and neurodegenerative disorders, neuromuscular diseases, and genetic syndromes. …”
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  7. 4167

    Mental deterioration in lafora's disease by A. Cukiert, M.M. Vilela, H.B. Scapolan, B. H. W. Lefèvre, L. Marques-Assis

    Published 1990-06-01
    “…Lafora's disease is included among the progressive myoclonic epilepsies. Despite the fact that dementia is a constant finding in this disease only a few papers have studied the timing of riental deterioration. …”
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  8. 4168

    Musical hallucination associated with hearing loss by T G Sanchez, S C M Rocha, K A B Knobel, M A Kii, R M R Santos, C B Pereira

    Published 2011-01-01
    “…Concerning the cortical area involved in musical hallucination, there is evidence that the excitatory mechanism of the superior temporal gyrus, as in epilepsies, is responsible for musical hallucination. …”
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  9. 4169

    Otizm Spektrum Bozukluğunda Refleks Tabanlı Motor ve Gelişimsel Problemler: Fear Paralysis ve Moro by Murat Eliöz, Ekrem Akbuğa

    Published 2021-12-01
    “…Ayrıca OSB, dispraksi, epilepsi, alerjiler, serebral palsi, disleksi gibi sorunlara yol açabilmekte veya eşlik edebilmektedirler. …”
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  10. 4170

    Peran Vektor Anopheles sp. dan Faktor Risiko Host dalam Kejadian Malaria Serebral serta Dampaknya terhadap Fungsi Otak Manusia di Wilayah Endemis by Budiyanti Mulyaningsih, Tien Zubaidah

    Published 2025-06-01
    “…Dampak neurologis yang umum meliputi gangguan kognitif, epilepsi, dan defisit motorik, dengan prevalensi komplikasi jangka panjang pada survivor mencapai 10–24%. …”
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  11. 4171
  12. 4172

    AMPA GluA1-flip targeted oligonucleotide therapy reduces neonatal seizures and hyperexcitability. by Nicole M Lykens, David J Coughlin, Jyoti M Reddi, Gordon J Lutz, Melanie K Tallent

    Published 2017-01-01
    “…Importantly, GR1 demonstrated anti-seizure properties and reduced post-seizure hyperexcitability in neonatal mice, highlighting its drug candidate potential for treating epilepsies and other neurological diseases involving network hyperexcitability.…”
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  13. 4173

    SEEG-Based Bilateral Seizure Network Analysis for Neurostimulation Treatment by Genchang Peng, Mehrdad Nourani, Jay Harvey

    Published 2025-01-01
    “…Epilepsy patients with drug-resistant seizures emanating from two or more distinct regions of left and right hemispheres are the primary candidates for neurostimulation treatment. …”
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  14. 4174

    Novel Lipid Formulation Increases Absorption of Oral Cannabidiol (CBD) by Edward Chesney, Ndabezinhle Mazibuko, Dominic Oliver, Amedeo Minichino, Ayşe Doğa Lamper, Lucy Chester, Thomas J. Reilly, Millie Lloyd, Matilda Kråkström, Alex M. Dickens, Matej Orešič, Eric Lynch, Gregory Stoloff, Mitul A. Mehta, Philip McGuire

    Published 2024-12-01
    “…<b>Background</b>: Cannabidiol (CBD) is an approved treatment for childhood epilepsies and a candidate treatment for several other CNS disorders. …”
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  15. 4175
  16. 4176

    DEPDC5 regulates the strength of excitatory synaptic transmission by interacting with ubiquitin-specific protease 46 by Maria Sabina Cerullo, Caterina Canevari, Antonella Marte, Alexandre Bacq, Antonio De Fusco, Marina Maletic, Stéphanie Baulac, Fabio Benfenati

    Published 2025-08-01
    “…Loss-of-function mutations in human DEPDC5 are the most common cause of lesional or non-lesional focal epilepsies associated with mTOR hyperactivation. Depdc5 silencing in mature neurons leads to excitation/inhibition imbalance and increased excitatory synapse strength. …”
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  17. 4177

    Efficacy and tolerability of perampanel as add‐on therapy in Dravet syndrome: A prospective real‐world study by Han Wang, Hong Chen, Xin Ding, Xueyan Cao, Jiahui Mai, Huafang Zou, Dongfang Zou, Yanwei Zhu, Jianxiang Liao, Dezhi Cao

    Published 2025-08-01
    “…Perampanel, as a novel anti‐seizure medication approved for focal and generalized epilepsies as add‐on therapy, showed sufficient efficacy and a satisfactory safety and tolerability profile in this study.…”
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  18. 4178

    Tratamento medicamentoso de 1217 pacientes epilépticos. II: estudo em relação à idade de início, ao tempo de doença e à freqüência das crises Drug treatment of 1217 epileptic patie... by Luís Marques-Assis

    Published 1970-03-01
    “…Since some initial forms, even when submitted to early treatment, had bad evolution, the presence of imponderable and unpredictable factors exercting negative influences in the prognosis of the epilepsies is admissible.…”
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  19. 4179

    Neuronal cell type specific roles for Nprl2 in neurodevelopmental disorder-relevant behaviors by Brianne Dentel, Lidiette Angeles-Perez, Abigail Y. Flores, Katherine Lei, Chongyu Ren, Andrea Pineda Sanchez, Peter T. Tsai

    Published 2025-02-01
    “…Loss of function in the subunits of the GTPase-activating protein (GAP) activity toward Rags-1 (GATOR1) complex, an amino-acid sensitive negative regulator of the mechanistic target of rapamycin complex 1 (mTORC1), is implicated in both genetic familial epilepsies and Neurodevelopmental Disorders (NDDs) (Baldassari et al., 2018). …”
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  20. 4180