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Tuesday, 07 January 2025

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Assuming diagnosis is required, the following 112 results were found.

  1. Narcolepsy-Cataplexyhttps://cnke.org/articles/241

    dyssomnia. New therapies, such as the inverse agonist of the histamine H3 receptor, appear promising. Making the correct diagnosis, offering reassurance that the disorder is not psychiatric, multidisciplinary follow-up, and academic support are crucial....

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

  2. PLA2G6-Associated Neurodegenerationhttps://cnke.org/articles/47

    of Children. McGraw Hill Book Company, pp. 127–30. Hogarth P (2015) Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord 8: 1–13. Kurian M, Hayflick SJ (2013) Pantothenate kinase-associated neurodegeneration (PKAN) and...

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

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

    in dystonia has also been reported in some cases . Conclusion BPAN presents a heterogeneous clinical spectrum. Early diagnosis and regular follow-up are crucial for managing the disease and providing genetic counseling. Understanding BPAN’s molecular...

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

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

    patients using electroencephalography (EEG). His research provided crucial insights into the nature of seizures and the diagnosis of epilepsy, helping to develop more effective treatments and management strategies for patients. In 1935, Lennox published...

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

  5. Lafora diseasehttps://cnke.org/articles/259

    disorder due to measles infection Cognitive decline, behavioral changes, myoclonic jerks, seizures, vision issues Diagnosis Initial symptoms: focal or myoclonic seizures Diagnostic confirmation: skin biopsy showing Lafora bodies, molecular genetic...

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

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

    the banding pattern in the CSF is distinct from the pattern seen in the serum. While OCBs are well known to assist in the diagnosis of multiple sclerosis it is important to recognize that they are found in many other situations like infections subacute...

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

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

    and (3) identifying the epilepsy syndrome where possible. In addition at each level it takes into account the aetiological diagnosis. Generalised seizures Tonic-Clonic (in any combination) absence seizures typical atypical absence with special features...

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

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

    at different stages of maturation which might be another explanation for the pathogenesis of BFNS[7] Differential diagnosis Benign neonatal seizures (non-familial) Benign (non-familial) neonatal seizuresBenign familial neonatal seizures Main seizures...

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

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

    is usually absent. A positive family history should prompt a search for a genetic or metabolic etiology. Differential Diagnosis Ohtahara syndrome Classic differentiation...

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    • Author: Editor
    • Category: Home

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

    presence of a family history should lead to an investigation for specific genetic or metabolic etiologies. Differential Diagnosis Ohtahara syndrome Early myoclonic encephalopathy Shuddering attacks Cite this: Cite this: CNKE contributors.West syndrome....

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    • Author: Editor
    • Category: Home

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

    BC, Rorem EA, Sundin K, Theisen A, Kashork CD, Shaffer LG (April 2005). "Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?". Am. J. Med. Genet. A 134 (3): 259–67. doi:10.1002/ajmg.a.30621. PMID15723295....

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    • Author: Editor
    • Category: Home

  12. Opsoclonus Myoclonus Ataxia Syndromehttps://cnke.org/articles/330

    and Ivig Treatment of OMS in children Prompt treatment is generally considered important and should be initiated when a diagnosis of OMS has been made. Brief delay for surgical removal of an associated neuroblastoma may be considered or initial doses of...

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

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

    of Tay and Sachs continues to influence the field of pediatric neurology, offering hope for future breakthroughs in the diagnosis and treatment of genetic neurological disorders.

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

  14. cherry-red-spothttps://cnke.org/?view=article&id=118:350&catid=15

    usually present due to the thickening and loss of transparency of the posterior pole of the retina. The differential diagnosis of cherry red spot includes: Vascular causes Central Retinal Artery Occlusion (CRAO) Sudden, painless, unilateral vision loss...

    • Type: Article
    • Author: Editor
    • Category: Image of the Week

  15. Migraine in childhoodhttps://cnke.org/articles/358

    Ineffective Treatment: Medication overuse headache Progression to chronic migraine Essential Components: Correct headache diagnosis Diagnostic testing for secondary headache disorders Assessment of premonitory/aura symptoms, headache features,...

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

  16. Opitz-Kaveggia Syndrome (OKS)https://cnke.org/articles/361

    traits. Behavioral characteristics include socially oriented and attention-seeking behaviors similar to Williams syndrome. Diagnosis Defined as an X-linked multiple congenital anomaly-cognitive impairment disorder caused by the R961W mutation in the...

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

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

    NAGA Encoded Protein: α-N-acetylgalactosaminidase Features: Intellectual disability, seizures, angiokeratomas. Key Points Diagnosis: Clinical suspicion based on phenotype, confirmed via genetic testing and enzyme analysis. Management: Supportive care...

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

  18. Gaucher Diseasehttps://cnke.org/articles/471

    start before birth. Fatal in infancy. Cardiovascular: Rare; glucocerebroside deposits in cardiovascular structures. Diagnosis Laboratory: Low glucocerebrosidase activity in leukocytes (

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

  19. Disclaimerhttps://cnke.org/about/disclaimer

    with current and reputable sources before applying them in clinical practice. This site does not provide medical advice, diagnosis, or treatment. The information contained herein is not intended to substitute for professional advice or expert medical...

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

  20. Ataxia Telangiectasia (AT)https://cnke.org/articles/151

    tumors (breast, liver) in adults. Endocrine and Gastrointestinal: Poor growth, gonadal failure, liver steatosis, diabetes. Diagnosis and Clinical Mimickers Diagnostic Tests: Serum Alpha Fetoprotein (AFP): Elevated in AT. Genetic Testing: Confirms...

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    • Author: Editor
    • Category: Home
Results 81 - 100 of 112