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    Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsy by Suvorit S. Bhowmick, Radhay Parikh, Pratishtha Shrivastav

    Published 2024-12-01
    “…Mitochondrial disorders often present with ataxia, myoclonus, and epilepsy. Valproic acid may be selected for treating myoclonus if it is the presenting feature. …”
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  4. 184

    Identifying biomarkers for epilepsy after cerebral malaria in Zambian children: rationale and design of a prospective observational study by Bo Zhang, Archana A Patel, Gretchen L Birbeck, Maitreyi Mazumdar, Suzanna Mwanza, Rosemary Nyirongo, Dixon Berejena, Joseph Kasolo, Tina Mwale, Violet Nambeye, Kafula Lisa Nkole, Nfwama Kawatu, Alexander Rotenberg

    Published 2022-07-01
    “…Introduction Malaria affecting the central nervous system (CM) is a major contributor to paediatric epilepsy in resource-poor settings, with 10%–16% of survivors developing epilepsy within 2 years of infection. …”
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    A Potential Role for Felbamate in TSC- and NF1-Related Epilepsy: A Case Report and Review of the Literature by Natanya M. Mishal, Dimitrios Arkilo, Ju Tang, John R. Crawford, Sonya G. Wang

    Published 2015-01-01
    “…Previous studies have shown that the NMDAR is altered in varying epilepsy syndromes and notably in the cortical tubers found in TSC. …”
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    8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy by Alejandra Rincon, Paola Paez-Rojas, Fernando Suárez-Obando

    Published 2019-01-01
    “…We describe a female with developmental delay, microcephaly, epilepsy, severe short stature, impaired speech, facial dysmorphism, and congenital deafness. …”
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    Use of Healthcare Claims Data to Generate Real-World Evidence on Patients With Drug-Resistant Epilepsy: Practical Considerations for Research by Nicole Stamas, Tom Vincent, Kathryn Evans, Qian Li, Vanessa Danielson, Reginald Lassagne, Ariel Berger

    Published 2024-02-01
    “…There are limited examples of comprehensive methodology for the generation of RWE on patients who have undergone neuromodulation for drug-resistant epilepsy (DRE). This is likely due, at least in part, to the many challenges inherent in using real-world data to define DRE, neuromodulation (including type implanted), and related outcomes of interest. …”
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    An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine by Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J. Vernon

    Published 2022-01-01
    “…Pyridoxine dependent-developmental and epileptic encephalopathy (PD-DEE) or pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in ALDH7A1. …”
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