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Monday, 06 January 2025

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Editor

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

  1. Repeat Expansionshttps://cnke.org/articles/187

    Introduction to Repeat Expansions Definition: Repeat expansions refer to the abnormal increase in the number of tandem nucleotide repeats in specific regions of the genome. Examples: CAG, CGG, CTG, GAA repeats. Significance: These expansions can...

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

  2. Mucopolysaccharidoses (MPS)https://cnke.org/articles/468

    Overview Mucopolysaccharidoses (MPS) are lysosomal storage disorders due to enzyme deficiencies impairing degradation of glycosaminoglycans (GAGs), also known as mucopolysaccharides. GAGs are complex sugar molecules found in connective tissues, skin,...

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

  3. Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)https://cnke.org/articles/215

    A dominantly inherited peripheral neuropathy characterized by an abnormal susceptibility to pressure-induced nerve palsies. Overview Definition: A dominantly inherited peripheral neuropathy characterized by an abnormal susceptibility to...

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

  4. Dysphoniahttps://cnke.org/articles/246

    Dysphonia is characterized by abnormalities in the pitch and volume of the voice, often manifesting as hoarseness or a reduced voice volume. Causes of Dysphonia Dysphonia can arise from two major categories of disorders: 1. Anatomical Causes: Acute...

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

  5. Fragile X Syndromehttps://cnke.org/articles/578

    FXS is the most prevalent inherited cause of mild-to-severe intellectual disability and the most common monogenic cause of autism spectrum disorder. Overview Fragile X Syndrome (FXS), also known historically as Martin-Bell syndrome, is a non-Mendelian...

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

  6. Autoimmune disordershttps://cnke.org/articles/200

    List of autoimmune neurological disorders in children, categorized by their primary clinical or pathophysiological presentation Central Nervous System (CNS) Disorders Demyelinating Disorders Acute Disseminated Encephalomyelitis (ADEM) Multiple...

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

  7. Investigations in Movement Disordershttps://cnke.org/articles/354

    Infancy (first 2 years of life) Neonatal Prader - Willi syndrome - hypokinesia and limb dystonia - fluorescent in situ hybridization/multiplex ligation-dependent probe amplification for deletion paternally inherited chromosome 15 Neonatal...

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

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

    LGMDs represent a heterogeneous group of inherited disorders primarily affecting the pelvic and shoulder girdle muscles, leading to muscle weakness and wasting. These conditions exhibit dystrophic muscle histology, characterized by: Ongoing...

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

  9. Tension-type headachehttps://cnke.org/articles/40

    Tension-type headache is one of the most common forms of headache among children and adolescents, alongside migraine. The prevalence of tension-type headache in this demographic is variable, with studies reporting a range from 0.9% to 73%, largely due...

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

  10. Cerebrotendinous Xanthomatosis (CTX)https://cnke.org/articles/146

    Introduction Rare autosomal recessive lipid storage disease. Abnormal cholestanol accumulation in the nervous system and other organ systems. Clinical manifestations: Brain, tendons, eyes, arteries. Spectrum of presentations: Infantile diarrhea,...

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

  11. Privacy statementhttps://cnke.org/about/privacy

    Privacy Statement for CNKE.ORG Effective Date: Feb 14, 2024 At CNKE.ORG, the Child Neurology Knowledge Environment, we are committed to protecting your privacy and ensuring that your personal information is handled securely and responsibly. This...

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

  12. Antiseizure medication interactionshttps://cnke.org/articles/311

    Expected changes in plasma concentrations when an AED is added to a pre-existing regimen AED added PB PHT PRM ETS CBZ VPA OXC LTG GBP TPM TGB LEV ZNS VGB FBM PB - PHT ↑↓ NCCP ETS ↓↓ CBZ ↓↓ VPA ↓↓ H-OXC ↓ LTG ↓↓ ↔ TPM ↓↓ TGB ↓↓ ↔ ZNS ↓↓ ↔ FBM ↓↓ PHT PB...

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

  13. Perampanel https://cnke.org/articles/292

    Perampanel is a first-in-class, noncompetitive, α-amino-3-hydroxyl-5-methyl-4-isoxazole-propionate (AMPA) receptor antagonist recently approved for the adjunctive treatment of partial seizures in patients 12 years of age and older when other...

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

  14. Fabry Diseasehttps://cnke.org/articles/472

    Overview Fabry disease: X-linked lysosomal storage disorder caused by mutations in the GLA gene. Deficiency of alpha-galactosidase A leads to accumulation of globotriaosylceramide (GL3) in tissues. Results in multi-organ disease with variable onset...

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

  15. Absence seizureshttps://cnke.org/articles/223

    Absence seizures are short seizures with behavioural arrest and generalised 3-Hertz spike-and-wave discharges on EEG. Absence seizures occur in multiple genetic generalized epilepsies, including Childhood Absence Epilepsy (CAE), juvenile absence...

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

  16. Guillaume Duchenne (1806–1875)https://cnke.org/historical-vignettes/175

    Guillaume-Benjamin-Amand Duchenne de Boulogne (September 17, 1806 – September 15, 1875) stands as one of the towering figures in the history of neurology, credited with groundbreaking advancements in electrophysiology and diagnostics. His relentless...

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

  17. Sleep issues in Rett Syndromehttps://cnke.org/articles/158

    Key points: Prevalence and Onset: Sleep problems affect 70–80% of individuals with RTT, with onset becoming evident between 18 months and 2 years. Sleep disturbances in RTT are significantly more common than in typically developing children. Sleep...

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

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

    Overview Generic Name: Fenfluramine Brand Names: Fintepla (current), Pondimin (previously) Drug Class: Serotonergic agent, anorectic (appetite suppressant) Chemical Information Chemical Formula: C12H16F3N Molecular Weight: 231.26 g/mol Indications...

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

  19. Lafora diseasehttps://cnke.org/articles/259

    Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration beginning in adolescence. It is characterized...

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

  20. Peripheral Nerve Hyperexcitability Syndromeshttps://cnke.org/articles/234

    Peripheral Nerve Hyperexcitability Syndromes (PNH) Peripheral Nerve Hyperexcitability (PNH) syndromes encompass a spectrum of disorders, including Isaacs syndrome, neuromyotonia, and cramp-fasciculation syndrome, characterized by abnormal, continuous...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 81 - 100 of 222