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Monday, 06 January 2025

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Editor

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

  1. Speech, Language, and Communication Disordershttps://cnke.org/articles/speech-language-and-communication-disorders

    ICD-10 Classification of Speech, Language, and Communication Disorders F80 Specific Disorders of Speech and Language Disorders characterized by disturbed normal language acquisition from early development stages. Not directly attributable to:...

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

  2. Papillodemahttps://cnke.org/articles/179

    Definition and Overview Papilloedema: Optic disc swelling due to raised intracranial pressure (ICP). Not a disease but a sign of underlying pathology. Bilateral in most cases; unilateral presentation is rare. Etiology Increased Intracranial Pressure...

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

  3. 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

  4. Terms and Conditionshttps://cnke.org/about/172

    Welcome to CNKE.org ("Website"), a platform developed to enhance knowledge and collaboration in child neurology. By accessing or using the Website and its content (collectively, "Licensed Content"), you agree to abide by the terms and conditions set...

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

  5. Investigations in suspected mitochondrial disordershttps://cnke.org/articles/34

    would point towards a nuclear mitochondrial gene, in particular polymerase gamma (POLG1) or the mitochondrial DNA helicase Twinkle. If the clinical picture points to a deficiency in pyruvate dehydrogenase (PDH) such as neonatal encephalopathy with...

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

  6. 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

  7. Benign familial neonatal epilepsyhttps://cnke.org/articles/266

    Benign familial neonatal epilepsy is a rare autosomal dominant epileptic syndrome characterised by frequent brief seizures within the first days of life. Clinical features Seizures mainly occur in full-term normal neonates following a normal pregnancy...

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

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

    1. Overview of Lysosomal Enzyme Deficiencies Lysosomal enzyme activity can be assessed in: Serum or plasma Leukocytes (white cell pellet) Cultured fibroblasts Neurological disorders associated with lysosomal enzyme deficiencies show variable severity....

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

  9. Rett Syndrome : Clinical Geneticshttps://cnke.org/articles/155

    History of Genetics in Rett Syndrome Early Theories: X-linked dominant, male-lethal (XDML) inheritance model. Differences in severity linked to X-chromosome inactivation (XCI). Key Genetic Discoveries: MECP2 mutations identified as the usual cause of...

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

  10. Centronuclear Myopathies (CNMs)https://cnke.org/articles/centronuclear-myopathies-cnms

    Overview Centronuclear myopathies (CNMs): A group of congenital myopathies characterized by centrally placed nuclei in muscle fibers on biopsy. Inheritance: X-linked recessive. Autosomal dominant. Autosomal recessive. Clinical Features: Generalized...

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

  11. Paroxysmal Kinesigenic Dyskinesiashttps://cnke.org/articles/271

    Historical Background The first known description of paroxysmal kinesigenic dyskinesias (PKD) was by Shuzo Kure (1892) detailing a Japanese man with PKD. Initial reports often regarded PKD as a form of reflex epilepsy. Currently it considered as one of...

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

  12. Rett Syndrome : Orthopaedic issueshttps://cnke.org/articles/157

    Proactive monitoring, early intervention, and individualized management to optimize the musculoskeletal health and quality of life for individuals with RTT is important. Key Highlights: Musculoskeletal Challenges in RTT: Hypotonia and Weakness: Early...

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

  13. Biochemical investigations in Bloodhttps://cnke.org/articles/13

    Blood Biochemistry Test Indications Precautions Interpretation α-AASA Neonatal epileptic seizures (usually with burst-suppression) and any unexplained refractory epilepsy up...

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

  14. How to edit this Knowledge Basehttps://cnke.org/about/182

    Tha aim of CNKE.org is to develop a comprehensive continually updated trustworthy resource in child neurology. This can only be made possible through collaborative content authoring. There are several ways you can get involved in creating and...

    • Type: Article
    • Author: Editor
    • Category: About

  15. 1p21.3 microdeletion syndromehttps://cnke.org/articles/153

    1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder Definition 1p21.3 microdeletion syndrome is a rare chromosomal anomaly...

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

  16. Central Core Disease (CCD)https://cnke.org/articles/220

    Overview Central Core Disease (CCD): A congenital myopathy characterized by central cores in muscle fibers on biopsy. Associated with mutations in the RYR1 gene, which encodes the skeletal muscle ryanodine receptor. Inheritance: Traditionally Autosomal...

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

  17. Cenobamatehttps://cnke.org/articles/308

    Introduction Cenobamate is an anticonvulsant medication used primarily for the treatment of partial-onset seizures in adults. It was first approved by the U.S. Food and Drug Administration (FDA) in November 2019. Mechanism of Action Cenobamate acts by...

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

  18. Vitamin responsive neurological conditionshttps://cnke.org/articles/201

    Vitamin-responsive conditions in child neurology, categorized by the vitamin involved. Vitamin A Vitamin A deficiency: Can cause vision problems, including night blindness and xerophthalmia. Vitamin A toxicity: Can lead to headaches, dizziness, nausea,...

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

  19. Illness Anxiety Disorder (IAD)https://cnke.org/articles/281

    Overview Definition: Illness Anxiety Disorder (IAD), formerly known as hypochondriasis, is characterized by excessive worry about having a serious illness despite having little or no medical evidence to support such concerns. Prevalence: Less common in...

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

  20. Ohtahara syndromehttps://cnke.org/articles/177

    Ohtahara syndrome is a rare electroclinical epilepsy syndrome with onset in the neonatal period. It is also known as early infantile epileptic encephalopathy (EIEE) or early infantile epileptic encephalopathy with burst suppression pattern. It is named...

    • Type: Article
    • Author: Editor
    • Category: Home
Results 61 - 80 of 222