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Tuesday, 07 January 2025

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Editor

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Assuming clinical is required, the following 157 results were found.

  1. Dentatorubral-Pallidoluysian Atrophy (DRPLA)https://cnke.org/articles/211

    size in the ATN1 gene Disease duration: ~8 years (range: 0-35 years) Mean age at death: 49 years (range: 18-80 years) Clinical Features Juvenile Onset (before age 20 years): Associated with ≥65 CAG repeats Key features: Developmental delay and...

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

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

    by abnormal, continuous muscle fiber activity due to primary neural dysfunction. These syndromes share overlapping clinical and electrophysiological features. Isaacs Syndrome: A Key PNH Syndrome Isaacs syndrome is a rare disorder of continuous motor...

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

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

    CSF leukocytosis or inflammatory changes on biopsy suggests that the pathological process is not one of inflammation. The clinical course is characterised by intractable recurrent/prolonged seizures suggesting neuronal hyperexcitation as the underlying...

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

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

    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, cataracts, tendon xanthomas,...

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

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

    NCCP = not commonly coprescribed; ↔ = No change; ↓ = a minor (or inconsistent) decrease in plasma concentration; ↓↓ = a clinically significant decrease in plasma concentration; ↑ = a minor (or inconsistent) increase in plasma concentration; ↑↑ = a...

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

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

    Intracerebral telangiectasias may appear. Peripheral Neuropathy: Sensorimotor polyneuropathy detectable early but often subclinical. Non-Neurologic Manifestations Telangiectasias: Seen on the sclera and sun-exposed skin by ~6 years. Dermatologic...

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

  7. Speech and Language developmental disordershttps://cnke.org/articles/243

    evidence supports targeted screening for speech and language delay to improve outcomes. Most cases are identified through clinical surveillance or presentation. Speech Production and Phonological System Speech relies on a phonemic system: Phonological...

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

  8. Kufor-Rakeb Syndrome https://cnke.org/articles/255

    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: Parkinsonism Pyramidal signs Supranuclear palsy with upgaze paresis...

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

  9. West syndromehttps://cnke.org/articles/268

    typically in the first year of life. Global developmental impairment (with or without regression) is typically seen. Clinical Context Onset of epileptic spasms occurs between 3 and 12 months of age, although later onset may occur. Infants may have had...

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

  10. Valproatehttps://cnke.org/articles/287

    Simple Absence: Brief loss of consciousness with generalized epileptic discharges. Complex Absence: Includes additional clinical signs. Intravenous Use: Valproate sodium injection for patients unable to take oral valproate temporarily. Clinical...

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

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

    antagonist, not displaced by glutamate. Inhibits glutamate receptor stimulation, suppressing seizure activity. Clinical Trials Efficacy: Demonstrated in several clinical trials. Anti-seizure activity is dose-dependent. Half-life: Approximately 105...

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

  12. Investigations of the baby with abnormal neurologyhttps://cnke.org/articles/317

    disease and later neural crest tumours. Polyalanine repeats are found in the paired homeobox gene PHOX2b. Floppy baby The clinical distinction should be attempted between non-paralytic hypotonia which tends to be axial hypotonia, and weakness which...

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

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

    this finding, recognizing its potential significance. Tay's observation was revolutionary, as it provided a tangible, clinical sign that could be associated with a specific neurological condition. Bernard Sachs' Contribution Several years after Tay's...

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

  14. About Ushttps://cnke.org/about/390

    as a central repository of in-depth information on child neurology, from fundamental concepts to the latest research and clinical guidelines. It also features topics on the history of child neurology and profiles of famous neurologists who have shaped...

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

  15. Investigations in Peroxisomal Disordershttps://cnke.org/articles/466

    chain fatty acids (VLCFA) may detect many peroxisomal isomers there is no 'metabolic screen' that will detect them all. CLINICAL CLUES TO PEROXISOMAL DISORDERS Neonatal hypotonia (especially extreme hypotonia of the neck) Neonatal seizures (refractory...

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

  16. Pompe Diseasehttps://cnke.org/articles/470

    in lysosomes. Pathophysiology: Lysosome rupture leads to tissue damage. Primarily affects skeletal and cardiac muscles. Clinical Presentation Infantile-Onset Pompe Disease (IOPD): Onset: First few months of life. Symptoms: Muscle weakness and hypotonia....

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

  17. Incontinentia Pigmentihttps://cnke.org/articles/475

    penetrance with variable expressivity. Demographics: Primarily affects females; rare in males (due to male lethality). Clinical Characteristics Skin Lesions: Follow Blaschko lines (cell migration pathways during embryogenesis). Evolve through four...

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

  18. Glycosylphosphatidylinositol (GPI) Anchor and Glycosphingolipid (GSL) Related Disordershttps://cnke.org/articles/476

    General Features Typically autosomal recessive inheritance; X-linked disorders also reported. Present with a spectrum of clinical phenotypes: Intellectual disability. Epilepsy. Dysmorphic features. Skeletal, cardiac, and systemic anomalies....

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

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

    Dose: 70 mg/day. Administration Guidelines: Taken orally, with or without food. Should not be crushed, chewed, or divided. Clinical Efficacy Studies and Trials: Demonstrated significant improvement in ADHD Rating Scale (ADHD-RS) scores. Comparable or...

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

  20. The Journey of Discovery: Unraveling Fragile X Syndromehttps://cnke.org/historical-vignettes/the-journey-of-discovery-unraveling-fragile-x-syndrome

    key founders of human and medical genetics. Her career was distinguished by a unique combination of mathematical training, clinical expertise, and genetic knowledge, which allowed her to uncover important insights into human inheritance. Bell’s...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes
Results 61 - 80 of 157