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Saturday, 12 April 2025

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Editor

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Assuming icas is required, the following 236 results were found.

  1. Duchenne Muscular Dystrophyhttps://cnke.org/articles/225

    Duchenne muscular dystrophy (DMD), followed by Becker muscular dystrophy (BMD) and the relatively new phenotype DMD associated dilated cardiomyopathy (DCM) are among the most recognized of a group of X-linked muscle disorders called dystropinopathies....

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

  2. Classification of the Epilepsieshttps://cnke.org/articles/knowledge-maps/263

    The ILAE Classification of the Epilepsies was updated in 2017[1][2] to reflect the advances made in recent years in the understanding of the epilepsies and their pathophysiologies since the classification was last ratified in 1989[3]. The current...

    • Type: Article
    • Author: Editor CNKE
    • Category: Knowledge Maps

  3. Augmentative and Alternative Communication (AAC)https://cnke.org/articles/250

    Definition and Purpose AAC provides alternative methods of communication for individuals with severe speech impairments or lack of speech. Aims to enable independent communication and improve quality of life, regardless of temporary or long-term speech...

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

  4. ADCY5 Dyskinesiahttps://cnke.org/articles/213

    ADCY5 dyskinesia is a hyperkinetic movement disorder characterized by infantile to late-adolescent onset of chorea, athetosis, dystonia, myoclonus, or a combination of these. Overview Hyperkinetic movement disorder, more prominent in the face and arms...

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

  5. Chronic Daily Headache Disorderhttps://cnke.org/articles/39

    Definition and Prevalence Chronic daily headache is diagnosed based on the presence of headaches occurring for 15 or more days per month, over a period of three consecutive months, without any underlying organic pathology. These headaches last for more...

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

  6. The History of Rett Syndromehttps://cnke.org/historical-vignettes/162

    Rett syndrome, a rare neurodevelopmental disorder predominantly affecting females, is characterized by profound physical and cognitive impairments. It was first described in 1966 by Dr. Andreas Rett, an Austrian pediatrician whose tireless work has...

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

  7. Myotonic Dystrophyhttps://cnke.org/articles/229

    Myotonic dystrophy (DM) is the most common form of myotonic myopathy, with an estimated prevalence of 1 in 7,000 people, though milder cases often go undiagnosed. Overview This multisystem disorder is inherited as an autosomal dominant trait and can...

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

  8. Posterior Fossa Syndrome (PFS)https://cnke.org/articles/248

    Definition and Overview Posterior Fossa Syndrome (PFS): A constellation of neurological and behavioral symptoms occurring in children following posterior fossa tumor resection. Incidence: Occurs in approximately 8% of children undergoing posterior...

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

  9. Inherited Cerebellar Ataxias (ICAs)https://cnke.org/articles/184

    ICAs are a group of rare, complex neurodegenerative diseases primarily affecting the cerebellum Introduction and Overview Definition: ICAs are a group of rare, complex neurodegenerative diseases primarily affecting the cerebellum Additional...

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

  10. Cerebellar ataxias according to main clinical featureshttps://cnke.org/articles/183

    Diseases Associated with Chorea Ataxia-Telangiectasia and Related Conditions ATX–ATM (Ataxia-Telangiectasia Mutated gene) A progressive condition involving cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased risk of malignancies....

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

  11. Hopkins syndromehttps://cnke.org/articles/hopkins-syndrome

    Introduction Hopkins Syndrome (HS) represents an exceedingly rare neurological disorder characterized by the abrupt onset of acute flaccid paralysis (AFP) typically subsequent to an exacerbation of asthma. The condition predominantly affects the...

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

  12. Plagiocephaly in infantshttps://cnke.org/articles/282

    Plagiocephaly in Infants Overview Definition: Plagiocephaly, often referred to as "flat head syndrome," is characterized by an asymmetrical cranial deformation. It includes positional (deformational) plagiocephaly and craniosynostosis. Incidence:...

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

  13. Gilles De La Tourette Syndromehttps://cnke.org/articles/260

    Overview Definition: Disorder characterized by multiple motor and vocal tics. Prevalence: Overall prevalence of 1% in children aged 5–18 years. Prevalence varies from 0.4–3.8% depending on country and diagnostic methodology (Eysturoy et al., 2015)....

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

  14. Nemaline Myopathy (NM)https://cnke.org/articles/219

    Overview Nemaline Myopathy (NM): A congenital myopathy characterized by rod-like inclusions (nemaline bodies) in skeletal muscle fibers. Inheritance: Autosomal dominant (AD), autosomal recessive (AR), or sporadic (new dominant mutations). Pathogenesis:...

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

  15. Circadian Rhythm Sleep-Wake Disorders (CRSWD)https://cnke.org/articles/164

    Introduction to Circadian Rhythms Definition: Circadian rhythms represent intrinsic, near-24-hour cycles that orchestrate physiological, behavioral, and molecular processes across the human body. These rhythms are foundational to maintaining...

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

  16. NGN-401https://cnke.org/articles/160

    NGN-401, a novel gene therapy approach, aims to address the underlying genetic cause of RTT by delivering a functional copy of MECP2 using an adeno-associated virus (AAV) vector. Rett syndrome, predominantly affecting females, is characterized by early...

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

  17. William G. Lennoxhttps://cnke.org/articles/51

    Early Life and Education Dr. William G. Lennox, born on July 15, 1884, in Boston, Massachusetts, was a pioneering neurologist known for his groundbreaking work in epilepsy research. Lennox pursued his undergraduate studies at Harvard University, where...

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

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

    Flat baby Further neurological investigations are indicated when the aetiology is not clearly asphyxia, trauma, infection or poisoning. Contributory causes include myotonic dystrophy and some congenital myopathies, glycine encephalopathy, mitochondrial...

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

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

    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. This momentous discovery marked the first description of what would later be...

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

  20. Rippling Muscle Disease (RMD)https://cnke.org/articles/232

    Rippling Muscle Disease (RMD) is a rare inherited muscle disorder classified as a caveolinopathy, primarily caused by mutations in the CAV3 gene, which encodes caveolin-3, a protein critical for muscle cell membrane stability. Key Clinical Features:...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 21 - 40 of 236