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Tuesday, 07 January 2025

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Editor

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Assuming main is required, the following 98 results were found.

  1. The First Description of Tay-Sachs Disease by Warren Tay, 1881https://cnke.org/historical-vignettes/117

    potential treatments such as gene therapy, enzyme replacement therapy, and substrate reduction therapy. While a cure remains elusive, these efforts represent significant strides towards improving the quality of life for those affected by the disease....

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes

  2. Welcome to the Child Neurology Forum on CNKE.org!https://cnke.org/topic-categories/21-general/1-welcome-to-the-cnke-forum

    platform. 💬 Discussions on Enhancements: Brainstorm ideas, suggest features, and provide feedback to ensure the CNKE Wiki remains a cutting-edge and user-friendly resource for the global child neurology community. 🤝 Global Collaboration: Connect with...

    • Type: Topic
    • Author: Editor
    • Category: General

  3. The Diagnosis of Rett Syndromehttps://cnke.org/articles/154

    gene (Amir et al.). Current Understanding: RTT is neurodevelopmental rather than degenerative. Despite advances, diagnosis remains clinical due to imperfect genotype-phenotype correlations. Overview of Clinical Features Developmental Regression...

    • Type: Article
    • Author: Editor
    • Category: Home

  4. Protectedhttps://cnke.org/article-flags/208

    Articles that attract frequent vandalism or edit wars (disagreements leading to repeated changes) are protected to maintain stability. Preserving Accuracy: Content that requires expert oversight or is part of official documentation may be protected to...

    • Type: Article
    • Author: Editor CNKE
    • Category: Article Flags

  5. NGN-401https://cnke.org/articles/160

    Despite its promise, NGN-401 faces several challenges: Dose Optimization: Balancing therapeutic efficacy with safety remains critical, given the narrow therapeutic window of MECP2. Patient Selection: Genetic variability among RTT patients necessitates...

    • Type: Article
    • Author: Editor
    • Category: Home

  6. Friedrich Horner: A Pioneer in Neuro-Ophthalmologyhttps://cnke.org/historical-vignettes/177

    miosis, and enophthalmos. While his contributions extended beyond this condition, his seminal observations in this area remain a cornerstone of clinical neurology. A Life Steeped in Learning and Innovation Horner's father, a physician, inspired his...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes

  7. GABRB3 Mutationshttps://cnke.org/articles/152

    Typical GABA-A receptors have: 2 α-subunits 2 β-subunits (e.g., GABRB3) 1 γ-subunit Ion Channel: Formed by transmembrane domains M1–M4 of each subunit. The M2 domain lines the ion channel pore. Function: GABA binding leads to chloride influx...

    • Type: Article
    • Author: Editor
    • Category: Home

  8. Fever induced refractory epileptic encephalopathy in school age childrenhttps://cnke.org/articles/305

    refractory The acute phase is followed by a chronic pharmacoresistant epilepsy associated with severe cognitive impairment mainly involving language, memory and behaviour. There is no latent period between the progression from acute to chronic phase....

    • Type: Article
    • Author: Editor
    • Category: Home

  9. Complete Rewritehttps://cnke.org/article-flags/335

    and its related fields. Inconsistent Tone or Style: Adjust the tone and style to align with CNKE.org’s editorial guidelines, maintaining a professional yet accessible approach.

    • Type: Article
    • Author: Editor CNKE
    • Category: Article Flags

  10. Guidelines for becoming an Editor on CNKE.ORGhttps://cnke.org/about/199

    CNKE.org is committed to maintaining a high standard of quality, accuracy, and depth in its content. To uphold these standards, we welcome contributors who demonstrate dedication and expertise in child neurology to join our editorial team. Below are...

    • Type: Article
    • Author: Editor CNKE
    • Category: About

  11. Emery-Dreifuss Muscular Dystrophy (EDMD)https://cnke.org/articles/227

    in: LMNA (lamins A and C) TMEM43 (LUMA) Rarely, SYNE1 (nesprin 1) and SYNE2 (nesprin 2) These proteins are involved in maintaining nuclear envelope integrity, crucial for skeletal and cardiac muscle function. Diagnostic Investigations Creatine Kinase...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  12. Limb-Girdle Muscular Dystrophieshttps://cnke.org/articles/228

    Pathophysiology Most LGMDs involve dysfunction of proteins associated with dystrophin or its related complexes, critical for maintaining the integrity of the sarcolemmal membrane: Dystrophin-associated proteins (DAPs): Include α, β-, δ-, and...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  13. Levetiracetamhttps://cnke.org/articles/278

    mg/mL Intravenous Solution: For patients who cannot take oral medications Dosage Adults: Initial dose: 500 mg twice daily. Maintenance dose: Can be increased to 1500 mg twice daily, based on response and tolerability. Children: Dosing varies based on...

    • Type: Article
    • Author: Editor
    • Category: Home

  14. Fenfluraminehttps://cnke.org/articles/280

    Tablets: Previously available in various strengths (Pondimin). Dosage Dravet Syndrome: Starting dose: 0.1 mg/kg twice daily. Maintenance dose: Up to 0.35 mg/kg twice daily, based on clinical response and tolerability. Side Effects Common: Decreased...

    • Type: Article
    • Author: Editor
    • Category: Home

  15. Metabolic derangements and Autismhttps://cnke.org/articles/126

    harm. Many diets require significant food restrictions, adding stress and expense for the family and the person with ASD. Maintenance of these diets may provide little or no documented benefit on autistic symptoms or behaviors. Review of Popular Diets:...

    • Type: Article
    • Author: Editor CNKE
    • Category: Home

  16. Ataxia Telangiectasia (AT)https://cnke.org/articles/151

    ATM Gene and Its Function ATM Gene: Encodes serine/threonine kinase involved in: DNA Repair (double-strand breaks). Telomere Maintenance. Cell-cycle Control. Redox Homeostasis. Mitophagy/Pexophagy. Apoptosis. Chromatin Remodeling. DNA Damage and ATM...

    • Type: Article
    • Author: Editor
    • Category: Home

  17. Transcranial Magnetic Stimulation (TMS) in Autism Spectrum Disordershttps://cnke.org/articles/182

    profiling to predict responders Neuroimaging-guided targeting Long-term follow-up studies: Durability of effects Need for maintenance sessions Investigation of age-dependent effects: Optimal timing for intervention Safety and efficacy in younger...

    • Type: Article
    • Author: Editor
    • Category: Home

  18. Migraine in childhoodhttps://cnke.org/articles/358

    using preventive medication at the 3-year mark Implications Sustained Reduction: Headache frequency and disability reduction maintained long-term Non-Pharmacologic Factors: Effectiveness attributed to expectations of medication response, natural disease...

    • Type: Article
    • Author: Editor
    • Category: Home

  19. Lisdexamfetamine Dimesylatehttps://cnke.org/articles/148

    and functional improvement. Onset of Action: Clinical effects seen within 1-2 hours after administration. Full effects maintained throughout the day. Safety and Side Effects Common Adverse Effects: Decreased appetite, weight loss. Insomnia,...

    • Type: Article
    • Author: Editor
    • Category: Home

  20. Methylphenidate Preparationshttps://cnke.org/articles/35

    hours and releases 22% of the total dose of MPH providing an initial maximum drug concentration at about 1 to 2 hours. The remaining 78% of the dose is osmotically controlled (osmotic-release oral system [OROS] technology) and released over 10 hours...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
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