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

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

    Introduction Definition: Rare X-linked genetic disorder affecting the skin, hair, teeth, nails, eyes, and CNS. Prevalence: Reported prevalence: ~1.2/100,000 in Europe. Female:Male ratio: 20:1. High penetrance with variable expressivity. Demographics:...

    • Type: Article
    • Author: Editor
    • Category: Home
  2. Congenital Muscular Dystrophyhttps://cnke.org/articles/224

    Congenital Muscular Dystrophy refers to a group of neuromuscular disorders manifesting as hypotonia and muscle weakness within the first 2 years of life, often from birth. Definition and Presentation CMD refers to a group of neuromuscular disorders...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
  3. Self Injurious Behaviour (SIB) https://cnke.org/articles/32

    Self Injurious Behaviour (SIB) SIB refers to a class of behaviors which the individual inflicts upon his/herself that have the potential to result in physical injury, more specifically tissue damage. SIB may manifest in numerous ways, including but not...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
  4. Transcranial Magnetic Stimulation (TMS) in Autism Spectrum Disordershttps://cnke.org/articles/182

    TMS presents a promising, non-invasive intervention for modulating neurophysiological abnormalities associated with ASD. Autism Spectrum Disorder (ASD) ASD is a neurodevelopmental disorder characterized by: Difficulties in social communication and...

    • Type: Article
    • Author: Editor
    • Category: Home
  5. Nesprinopathieshttps://cnke.org/articles/318

    Definition and Cause Nuclear envelopathies are diseases resulting from mutations in genes encoding parts of the inner nuclear membrane, nuclear lamina, and outer nuclear membrane. Key components include Emerin, MAN1, LAP2, LBR, Lamins A and C, Lamins...

    • Type: Article
    • Author: Editor
    • Category: Home
  6. The Diagnosis of Rett Syndromehttps://cnke.org/articles/154

    The Diagnosis of Rett Syndrome (RTT) Introduction Definition: Rett Syndrome (RTT) is a rare neurodevelopmental disorder, primarily affecting females, characterized by developmental regression, loss of acquired skills, and stereotypic hand movements....

    • Type: Article
    • Author: Editor
    • Category: Home
  7. Bromideshttps://cnke.org/articles/bromides

    Introduction Nature and Origin: Bromide is an inorganic ion similar to chloride. Naturally present in the environment, especially in seawater (approximately 65 mg/L). Found in significant amounts in human blood due to seafood consumption. Historical...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
  8. Acquired Dysarthriahttps://cnke.org/articles/247

    Dysarthria is a speech articulation impairment affecting intelligibility, particularly through consonant production. It can also disrupt phonation, resonation, and prosody, leading to slurred, effortful speech. Dysarthria is often associated with...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
  9. Lisdexamfetamine Dimesylatehttps://cnke.org/articles/148

    Lisdexamfetamine Dimesylate Brand Names: Vyvanse, Elvanse. Drug Class: Prodrug stimulant. Mechanism of Action: Lisdexamfetamine is a prodrug of d-amphetamine. Activated enzymatically in the bloodstream to d-amphetamine. Increases availability of...

    • Type: Article
    • Author: Editor
    • Category: Home
  10. Glycosylphosphatidylinositol (GPI) Anchor and Glycosphingolipid (GSL) Related Disordershttps://cnke.org/articles/476

    Introduction to Glycosylation Disorders Glycosylation is a critical post-translational modification affecting protein stability, localization, and function. Disorders of glycosylation have been increasingly recognized with advancements in...

    • Type: Article
    • Author: Editor
    • Category: Home
  11. Wilder Graves Penfieldhttps://cnke.org/articles/296

    Wilder Graves Penfield (January 26, 1891 – April 5, 1976) was a pioneering Canadian neurosurgeon known for his groundbreaking work in brain surgery and for developing the "Montreal Procedure," which is used to treat severe epilepsy. His work...

    • Type: Article
    • Author: Editor
    • Category: Home
  12. The First Hemispherectomyhttps://cnke.org/historical-vignettes/142

    The first hemispherectomy for epilepsy, performed by Dr. Kenneth G. McKenzie in 1938, marked a groundbreaking moment in neurosurgery and epilepsy treatment. A Canadian neurosurgeon based at Toronto General Hospital, Dr. McKenzie is celebrated for his...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes
  13. Neuroleptic Malignant Syndrome (NMS)https://cnke.org/articles/239

    Neuroleptic Malignant Syndrome (NMS) Definition: Neuroleptic Malignant Syndrome (NMS) is a rare, potentially life-threatening condition associated with the use of antipsychotic medications. It shares clinical features with Malignant Hyperthermia (MH)...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
  14. Childhood Apraxia of Speech (CAS) or Verbal Dyspraxiahttps://cnke.org/articles/244

    Childhood Apraxia of Speech is a complex, multifactorial speech motor programming disorder. Its diagnosis and management require a multidisciplinary approach that integrates speech therapy, cognitive support, and, where appropriate, genetic evaluation....

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
  15. Trofinetidehttps://cnke.org/articles/161

    Trofinetide is a synthetic analogue of glycine-proline-glutamate (GPE), an amino-terminal tripeptide derived from insulin-like growth factor-1 (IGF-1). It is emerging as a promising therapeutic agent for neurodevelopmental and neurodegenerative...

    • Type: Article
    • Author: Editor
    • Category: Home
  16. Fetal Neurologyhttps://cnke.org/articles/355

    Fetal neurology is a specialized branch of medicine that focuses on the study, diagnosis, and management of neurological conditions affecting the developing fetus. This field encompasses the understanding of normal fetal brain development, the...

    • Type: Article
    • Author: Editor
    • Category: Home
  17. Idiopathic Intracranial Hypertensionhttps://cnke.org/articles/178

    Overview Definition: Elevation of intracranial pressure (ICP) without an identifiable cause. Demographics: Primarily affects obese young women of childbearing age. Prevalence: Ranges from 0.5–2 per 100,000, increasing with the global rise in obesity....

    • Type: Article
    • Author: Editor
    • Category: Home
  18. Friedrich Horner: A Pioneer in Neuro-Ophthalmologyhttps://cnke.org/historical-vignettes/177

    Friedrich Horner, a Swiss ophthalmologist born in Zurich in 1831, left an indelible mark on medical science through his meticulous work on oculosympathetic lesions. His name endures in the annals of neuro-ophthalmology with the eponymous "Horner's...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes
  19. Pendular Nystagmushttps://cnke.org/articles/462

    Definition Pendular nystagmus is a form of involuntary eye movement characterized by oscillations of equal speed in both directions, resembling a pendulum's motion. It can affect one or both eyes and is typically seen in neurological or sensory...

    • Type: Article
    • Author: Editor
    • Category: Home
  20. Valproatehttps://cnke.org/articles/287

    Introduction Revolutionized Treatment: Introduced in the early 1960s. Significant impact on the treatment of generalized epilepsies. Chemical Composition: Valproic acid: 2-propyl pentanoic acid, 2-propyl valeric acid. Initially used as an organic...

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