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Saturday, 04 January 2025

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Editor

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Assuming fragile is required, and x is required, and syndrome is required, the following 11 results were found.

  1. 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
    • Category: Home

  2. Hereditary ataxias due to repeat expansionshttps://cnke.org/articles/186

    Hereditary ataxias are caused by repeat expansions in specific genes. Testing for repeat expansions is recommended before Next-Generation Sequencing (NGS) analysis. Key clinical features often include cerebellar ataxia and other systemic...

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

  3. 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: Home

  4. 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

  5. Repeat Expansionshttps://cnke.org/articles/187

    critical thresholds, impairing gene function. Disease-specific thresholds: Huntington’s disease: >40 CAG repeats. Fragile X syndrome: >200 CGG repeats. Types of Repeat Expansions Coding Region Repeats: Polyglutamine diseases (e.g., Huntington’s disease)...

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

  6. Fragile X Syndromehttps://cnke.org/articles/578

    of mild-to-severe intellectual disability and the most common monogenic cause of autism spectrum disorder. Overview Fragile X Syndrome (FXS), also known historically as Martin-Bell syndrome, is a non-Mendelian trinucleotide repeat disorder. Most common...

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

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

    EEF1A2 Epileptic encephalopathy RORB Epileptic encephalopathy ZEB2 Mowat-Wilson syndrome with epilepsy FMR1 Fragile X syndrome with epilepsy Genetic Epilepsy with Febrile Seizures Plus (GEFS+) SCN1A SCN1B SCN2A GABRG2 GABRD GABRA1 Benign Familial...

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

  8. Why doesn't Whole Exome Sequencing detect Fragile X syndrome?https://cnke.org/topic-categories/21-general/4-why-doesnt-whole-exome-sequencing-detect-fragile-x-syndrome

    are the drawbacks in requesting Whole Exome Sequencing to detect Fragile X syndrome.Why are the drawbacks in requesting Whole Exome Sequencing to detect Fragile X syndrome.

    • Type: Topic
    • Author: Roger
    • Category: General

  9. Comparitive genomic hybridization (CGH) https://cnke.org/articles/288

    Comparitive genomic hybridization (CGH) or Chromosomal microarray analysis(CMA) is a modern cytogenetic technique for analyzing variations in DNA copy-number. Alteration in DNA copy number is one of the many ways in which modification of gene...

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

  10. Trofinetidehttps://cnke.org/articles/161

    significant improvements in behavior, motor skills, and quality of life metrics in patients treated with Trofinetide. Fragile X Syndrome: Early studies suggest potential benefits in managing cognitive deficits and behavioral symptoms associated with...

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

  11. Fragile X Syndromehttps://cnke.org/topics/fragile-x-syndrome

    • Type: Tag
    • Author: Editor
Results 1 - 11 of 11