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Thursday, 09 January 2025

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Editor

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Assuming nerve is required, the following 69 results were found.

  1. MED12L Variant and Its Role in Human Diseasehttps://cnke.org/articles/360

    speech disorders. Other features include autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), optic nerve abnormalities, Duane anomaly, hypotonia, mild congenital heart defects, and distinctive facial features. MED13L MED13L...

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

  2. Investigations in Lysosomal Disordershttps://cnke.org/articles/467

    ARSA levels. Diagnostic temptation: Culturing fibroblasts. Searching for sulphatides in urinary sediment or conducting sural nerve biopsies based on partial ARSA deficiency. Recommendation: Avoid pursuing an MLD diagnosis based solely on partial enzyme...

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

  3. Epilepsy in Rett Syndromehttps://cnke.org/articles/156

    and benzodiazepines. Avoid: Phenobarbitone (causes drowsiness, less effective). Advanced Therapies: Ketogenic diet and vagal nerve stimulation may help in drug-resistant cases. Management Approach: Avoid overtreatment of infrequent or mild seizures....

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

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

    pathologie et à la thérapeutique. This work established diagnostic principles that are still foundational today, including nerve conduction studies (NCS). His companion atlas, Album de photographies pathologiques, broke new ground as the first neurology...

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

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

    meticulous clinical examination, he described the incomplete ptosis, miosis, and enophthalmos associated with sympathetic nerve lesions. His diagnostic rigor extended to assessing facial temperature asymmetry and pupillary responses to pharmacological...

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

  6. Stiff Person Syndromehttps://cnke.org/articles/235

    vitiligo). Up to 80% of patients have autoantibodies against glutamic acid decarboxylase (GAD), an enzyme found in GABAergic nerve terminals and pancreatic beta cells. Paraneoplastic Syndromes: In some cases, SPS may be associated with cancers, such as...

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

  7. Alexander Diseasehttps://cnke.org/articles/253

    regression, spasticity. Distinguishing Features: MRI shows deep white matter involvement with tigroid pattern; early cranial nerve enhancement. Canavan Disease: Gene: ASPA. Overlapping Features: Hypotonia, macrocephaly, developmental delay....

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

  8. The Normal EEG in Childrenhttps://cnke.org/articles/25

    Introduction Paediatric EEG Normal Awake 3-12 months 14 months-2years 3-4 years 5-10 years 11-16 years Hyperventilation Normal Drowsiness, Sleep, Arousal Drowsy patterns Burst Drowsy Patterns V Waves Spindles V Waves and Spindles Positive Occipital...

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

  9. The Cherry Red Spothttps://cnke.org/articles/170

    Introduction In 1881, British ophthalmologist Warren Tay published his groundbreaking observation of a cherry-red spot on the retina of a child suffering from a neurological disorder. Term first used in 1887 by Bernard Sachs in a paper on “arrested...

    • Type: Article
    • Author: Editor
    • Category: Home
Results 61 - 69 of 69