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Saturday, 12 April 2025

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Editor

Here are a few examples of how you can use the search feature:

Entering this and that into the search form will return results containing both "this" and "that".

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Search results can also be filtered using a variety of criteria. Select one or more filters below to get started.

Assuming ataxias is required, the following 49 results were found.

  1. Common Epilepsy Geneshttps://cnke.org/articles/277

    Ion Channel Genes SCN1A Dravet syndrome Generalized epilepsy with febrile seizures plus (GEFS+) SCN2A Benign familial neonatal-infantile seizures (BFNIS) Epileptic encephalopathy SCN8A Epileptic encephalopathy KCNQ2 Benign familial neonatal seizures...

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

  2. 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 CNKE
    • Category: Articles

  3. Mucolipidoses and Oligosaccharidoseshttps://cnke.org/articles/469

    Overview Definition: Rare lysosomal storage disorders involving the accumulation of complex carbohydrates or lipids. Shared Features with MPS Disorders: Developmental delay. Organomegaly. Dysostosis multiplex. Progressive Conditions: All are...

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

  4. 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 CNKE
    • Category: Articles

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

    Fragile X Syndrome, the most common inherited cause of intellectual disability and autism spectrum disorder, is now a well-recognized condition. However, its discovery and understanding were long journeys marked by scientific curiosity, serendipity,...

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

  6. Neurometabolic Disordershttps://cnke.org/articles/knowledge-maps/209

    Disorders of Carbohydrate Metabolism Glycogen Storage Diseases (GSDs): Type I (Von Gierke disease) Type II (Pompe disease) Type III (Cori-Forbes disease) Type IV (Andersen disease) Type V (McArdle disease) Type VI (Hers disease) Type VII (Tarui...

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

  7. Muscle Conditions with Myotonia or Myotonia-like Symptomshttps://cnke.org/articles/knowledge-maps/230

    Muscle Conditions with Myotonia or Myotonia-like Symptoms Clinical and Electrical Myotonia Conditions where both clinical symptoms of myotonia (delayed muscle relaxation after contraction) and electrical myotonia (diagnosed via EMG) are present:...

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

  8. 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

  9. Biju Hameedhttps://cnke.org/editors/biju-hameed

    Dr. Biju Abdul Hameed obtained his medical degree from India in 1994 and went on to complete his further training at Bristol Royal Hospital for Children in the United Kingdom. There, Dr. Hameed worked as a consultant pediatric neurologist in 2016 and...

    • Type: Article
    • Author: Editor CNKE
    • Category: Editors
Results 41 - 49 of 49