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Monday, 06 January 2025

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Assuming icas is required, the following 222 results were found.

  1. PLA2G6-Associated Neurodegenerationhttps://cnke.org/articles/47

    Overview PLA2G6-associated neurodegeneration (PLAN), also referred to as NAD or PARK14, is caused by mutations in the gene encoding calcium-independent phospholipase A2 (PLA2G6) (Figs 19.6a and 19.6b). The disease can manifest as classic infantile...

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

  2. Investigations in Rare Treatable Disordershttps://cnke.org/articles/289

    Investigations and Management of Rare Treatable Neurological Disorders 1. AR-GCH1 Deficiency Without Hyperphenylalaninaemia Presentation: Resembles cerebral palsy, oculogyric crises, tremulousness, bradykinesia. Key Investigations: Phenylalanine...

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    • Author: Editor
    • Category: Home

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

    Introduction Definition: Ataxia Telangiectasia (AT) is a rare neurocutaneous disorder caused by biallelic pathogenic variants in the ATM gene. Core Manifestations: Cerebellar ataxia in early toddler years. Oculocutaneous telangiectasias in school-aged...

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    • Author: Editor
    • Category: Home

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

    The following article(s) are protected from editing by certain member groups. This is necessary in some cases to prevent disruptive editing or if they contain sensitive information. Protection is a technical restriction applied only by administrators,...

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

  5. Confusinghttps://cnke.org/article-flags/336

    The following article(s) may be confusing or unclear to readers and requires clarification to enhance its readability and comprehension. Clear and well-structured content is essential to ensure CNKE.org remains a reliable and accessible resource for...

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

  6. Contexthttps://cnke.org/article-flags/337

    The following article provides insufficient context for readers unfamiliar with the subject. To make it more accessible and engaging, the article would benefit from a more comprehensive and introductory style that clearly defines the topic and...

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

  7. Clean Uphttps://cnke.org/article-flags/334

    The following article(s) contain embedded lists and tables that may be poorly defined, unverified, or overly indiscriminate, potentially affecting the clarity and reliability of the information. To maintain CNKE.org’s quality standards, these elements...

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

  8. Copy Editing Issueshttps://cnke.org/article-flags/338

    The following article(s) may require copy editing to enhance its overall quality and ensure it meets CNKE.org’s standards for grammar, style, cohesion, tone, and spelling. Attention to these elements will improve readability and maintain the...

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

  9. CNS Degenerative Disorders of Childhoodhttps://cnke.org/articles/315

    Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Motor System Seizures Laboratory and Tissue Studies Course Adrenoleukodystrophy and variants (peroxisomal disease) X-linked Xq28 Neonatal form: AR Acyl-CoA synthetase 5–10...

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    • Author: Editor
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  10. Kufor-Rakeb Syndrome https://cnke.org/articles/255

    Overview Kufor-Rakeb Syndrome (KRS), also known as PARK9, is a rare neurodegenerative disorder caused by mutations in the ATP13A2 gene. It was first reported by Nisipeanu et al. in 1994. Clinical Features The initial symptoms of KRS typically include:...

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    • Author: Editor
    • Category: Home

  11. Landau-Kleffner Syndromehttps://cnke.org/articles/169

    Landau-Kleffner syndrome (LKS), or acquired epileptiform aphasia, is an epilepsy syndrome involving progressive neuropsychological impairment related to the appearance of paroxysmal electroencephalograph (EEG) activity. History Frank R Kleffner...

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

  12. Neural tube developmenthttps://cnke.org/articles/356

    Day 15 Post-Conception (p/c): Formation of the primitive streak of specialized neuroectoderm on the dorsal surface of the embryo. Hensen’s Node:Development of the neural tube and neural crest. Fig. A shows the action of dorsalising signals from the...

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    • Author: Editor
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  13. CNS Tumourshttps://cnke.org/articles/203

    Tumours of the CNS Central Nervous System (CNS) Tumors Based on WHO Classification A. Gliomas (Neuroepithelial Tissue Tumors) Astrocytic Tumors Pilocytic Astrocytoma (WHO Grade I) Diffuse Astrocytoma (WHO Grade II) Anaplastic Astrocytoma (WHO Grade III)...

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

  14. Genetic Epilepsy with Febrile Seizures Plus (GEFS+)https://cnke.org/articles/276

    Overview Spectrum of Seizure Disorders Varying severity Diagnosed in families with: Febrile seizures (triggered by high fever) Recurrent seizures (epilepsy) of other types, including afebrile seizures Seizure Types: Generalized seizures Partial...

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    • Author: Editor
    • Category: Home

  15. William M Landau [1924-2017]https://cnke.org/articles/172

    Landau was a professor of neurology at Washington University School of Medicine in St. Louis from 1954 to 2012 and served as head of the Department of Neurology from 1970 to 1991. He was the longest-serving faculty member at the School of Medicine....

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    • Author: Editor
    • Category: Home

  16. New Article Requestshttps://cnke.org/about/174

    To propose a new article Use the comments section at the bottom of this "New Article Requests" page on CNKE.ORG to submit your topic proposals. Ensure your proposal aligns with the evaluation criteria outlined here. Conduct a thorough search to confirm...

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    • Category: About

  17. CNS Degenerative Disorders in Infancyhttps://cnke.org/articles/314

    Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Somatic Findings Motor Findings Seizures Labs Clinical Course White matter Globoid (Krabbe) leukodystrophy Recessive galactocerebroside β-galactosidase deficiency....

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    • Author: Editor
    • Category: Home

  18. Trigeminal autonomic cephalalgias https://cnke.org/articles/41

    Trigeminal autonomic cephalalgias (TACs) are a group of headache disorders characterized by repetitive, brief episodes of severe unilateral pain accompanied by ipsilateral autonomic symptoms such as rhinorrhea, nasal congestion, lacrimation, and...

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

  19. Atypical benign partial epilepsyhttps://cnke.org/articles/28

    Atypical benign partial epilepsy (ABPE) of childhood or pseudo-Lennox syndrome is a form of idiopathic focal epilepsy characterized by multiple seizure types, focal and/or generalized epileptiform discharges, continuous spike–wave during sleep (CSWS),...

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

  20. Opsoclonus Myoclonus Ataxia Syndromehttps://cnke.org/articles/330

    Recommendations for the Dosing and Monitoring of Immunotherapeutic Agents in the Treatment of OMAS: Steroid Treatment and Ivig Treatment of OMS in children Prompt treatment is generally considered important and should be initiated when a diagnosis of...

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    • Author: Editor
    • Category: Home
Results 181 - 200 of 222