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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. Facioscapulohumeral muscular dystrophy https://cnke.org/articles/226

    Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy characterized by progressive, often asymmetrical muscle weakness involving the face, scapular region, and limb girdle muscles. Clinical features Primary Symptoms: Wasting...

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

  2. Ataxias: Differential Diagnosishttps://cnke.org/articles/185

    Acute Ataxias Vascular Disorders Cerebellar Ischemia: Reduced blood flow to the cerebellum leading to infarction. Cerebellar Hemorrhage: Bleeding within the cerebellum, often associated with hypertension or anticoagulation therapy. Medications and...

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

  3. Congenital Fibre-Type Disproportion (CFTD)https://cnke.org/articles/congenital-fibre-type-disproportion-cftd

    Congenital Fibre-Type Disproportion (CFTD) is a rare congenital myopathy characterized by a disproportion in muscle fibre size. The key features and considerations for CFTD are summarized below: Overview CFTD is considered a diagnosis of exclusion. It...

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

  4. Psychometric measureshttps://cnke.org/articles/197

    Common psychometric measures used in the developmental and neuropsychaological assessment of children based on the domains they assess. General Cognitive Ability Wechsler Intelligence Scale for Children (WISC-V) Stanford-Binet Intelligence Scales (SB5)...

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

  5. Hyperekplexiahttps://cnke.org/articles/236

    Hyperekplexia, also known as stiff baby syndrome, is a rare neurological disorder characterized by abnormal startle responses and muscle stiffness. The condition primarily affects neonates and infants, though milder forms can persist into adulthood....

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

  6. Beta-propeller protein-associated neurodegeneration (BPAN)https://cnke.org/articles/48

    Introduction Beta-propeller protein-associated neurodegeneration (BPAN) is a rare form of neurodegeneration with brain iron accumulation (NBIA). It was first described by Haack et al. in 2012, initially termed static encephalopathy of childhood with...

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

  7. MED12L Variant and Its Role in Human Diseasehttps://cnke.org/articles/360

    MED12L is a gene that plays a crucial role in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. It is highly conserved across eukaryotes and contains 43 exons. The protein encoded by MED12L is a component of the Mediator...

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

  8. Whole Genome Sequencing (WGS)https://cnke.org/articles/290

    Definition: Whole Genome Sequencing (WGS) is a comprehensive method for analyzing the entire DNA sequence of an organism’s genome at a single time. Process: Sample Collection: DNA is extracted from a sample (e.g., blood, saliva, tissue). DNA...

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

  9. West syndromehttps://cnke.org/articles/268

    Overview West syndrome is characterized by the onset of epileptic spasms, typically in the first year of life. Global developmental impairment (with or without regression) is typically seen. Clinical Context Onset of epileptic spasms occurs between 3...

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

  10. Hereditary Neuralgic Amyotrophy (HNA)https://cnke.org/articles/216

    A dominantly inherited condition characterized by recurrent episodes of brachial plexopathy with pain and weakness. Overview Definition: A dominantly inherited condition characterized by recurrent episodes of brachial plexopathy with pain and weakness....

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

  11. Benign Familial Infantile Seizureshttps://cnke.org/articles/275

    Epidemiology Global Reports: BFIE cases have been reported worldwide. Prevalence and Incidence: Remain unknown. Clinical Description Age of Onset: Seizures usually occur between 3 to 8 months of life. Seizure Characteristics: Clusters of 8-10 episodes...

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    • Author: Editor
    • Category: Home

  12. Levetiracetamhttps://cnke.org/articles/278

    Overview Generic Name: Levetiracetam Brand Names: Keppra, Spritam, Elepsia, Roweepra Drug Class: Antiepileptic drug (AED) Chemical Information Chemical Formula: C8H14N2O2 Molecular Weight: 170.21 g/mol Indications Epilepsy: Partial-onset seizures (with...

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

  13. Symptomatic drugs for migraine management evaluated in placebo-controlled and open clinical trialshttps://cnke.org/articles/316

    References Drug Study Design Evidence level Dose Age(years) Number of patients Responders (%) Active drug Responders (%) Placebo p value Hamalainen et al 1997 Ibuprofen RCT A 10 mg/kg 4–16 88 68 37 Lewis et al 2002 Ibuprofen RCT 7.5 mg/kg 6–12 84 76 53...

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

  14. Guidelines for becoming an Editor on CNKE.ORGhttps://cnke.org/about/199

    CNKE.org is committed to maintaining a high standard of quality, accuracy, and depth in its content. To uphold these standards, we welcome contributors who demonstrate dedication and expertise in child neurology to join our editorial team. Below are...

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

  15. Oligoclonal bands https://cnke.org/articles/262

    Overview Oligoclonal bands (OCBs) are bands of immunoglobulins that are seen when a patient's blood serum, or cerebrospinal fluid (CSF) is analyzed. The presence of two or more bands of immunoglobulin on isoelectric focusing (IEF ) of CSF is referred...

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

  16. Henri Gastaut [1915 - 1955]https://cnke.org/articles/362

    Henri Gastaut was a renowned neurologist who passed away on July 15, 1995, at the age of 80 after a prolonged illness. Born in Monaco on April 5, 1915, Gastaut came from a modest family background and had an initially lackluster academic career,...

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

  17. Early myoclonic encephalopathyhttps://cnke.org/articles/267

    Overview Early myoclonic encephalopathy is a syndrome characterized by: Frequent intractable seizures Severe early encephalopathy Limited development and reduced life expectancy Frequent myoclonic seizures distinguish this syndrome from Ohtahara...

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

  18. USP7 related disordershttps://cnke.org/articles/147

    Introduction Definition: USP7-related disorder, also known as Hao-Fountain Syndrome (HFOUS), results from pathogenic variants or deletions in the USP7 gene. The USP7 gene is located on chromosome 16p13.2 and encodes ubiquitin-specific protease 7, a key...

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

  19. Benign Paroxysmal Torticollis of Infancyhttps://cnke.org/articles/270

    Etymology and Definition The name "torticollis" comes from the Latin words "tortus" (twisted) and "collum" (neck). Torticollis typically involves the head being tilted to one side and rotated so that the chin points to the opposite side. It is a common...

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

  20. New Article Submission Policy and Procedurehttps://cnke.org/about/173

    CNKE.ORG publishes articles relevant and useful to its audience, specifically healthcare professionals, researchers, and educators in child neurology. Current editorial policy requires that any new articles on the site first go through a submission and...

    • Type: Article
    • Author: Editor
    • Category: About
Results 101 - 120 of 222