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Tuesday, 07 January 2025

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Editor

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Assuming clinical is required, the following 157 results were found.

  1. Migraine, Clinical Trialshttps://cnke.org/topics/migraine-clinical-trials

    • Type: Tag
    • Author: Editor

  2. Aicardi-Goutières syndromehttps://cnke.org/articles/175

    lymphocytosis in the cerebrospinal fluid. The condition has subsequently been shown to be both genotypically and clinically heterogenous. Clinical features There are two distinct forms of the syndrome: Early onset severe affects about 20 percent of all...

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

  3. Plagiocephaly in infantshttps://cnke.org/articles/282

    more prevalent, particularly since the "Back to Sleep" campaign for SIDS prevention. Craniosynostosis is less common but clinically significant due to potential neurodevelopmental implications. Positional Plagiocephaly Etiology: Results from prolonged...

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

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

    Mitochondrial disorders - investigations Definitive investigations have become more complex and specialized. However, clinical clues can point towards a mitochondrial disorder and fairly simple tests support the diagnosis sufficiently to proceed to...

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

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

    dementia. Pathogenic mutations in the WDR45 gene are responsible for BPAN, which constitutes about 7% of NBIA disorders . Clinical Spectrum BPAN presents with delayed psychomotor development and intellectual disability from infancy or early childhood. A...

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

  6. Mucopolysaccharidoses (MPS)https://cnke.org/articles/468

    GLB1 β-galactosidase MPS VI ARSB Arylsulfatase B MPS VII GUSB β-glucuronidase MPS IX HYAL1 Hyaluronidase MPS I and MPS II Clinical Features: Severe forms present in preschool children with: Developmental delay, short stature, recurrent infections....

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

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

    plasticity by regulating excitatory and inhibitory balance, which is often disrupted in neurodevelopmental disorders. Clinical Applications Trofinetide is currently being investigated for its role in treating rare and complex neurological conditions,...

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

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

    placed nuclei in muscle fibers on biopsy. Inheritance: X-linked recessive. Autosomal dominant. Autosomal recessive. Clinical Features: Generalized weakness, hypotonia, ophthalmoplegia, and respiratory involvement. Delayed motor milestones and skeletal...

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

  9. Duchenne Muscular Dystrophyhttps://cnke.org/articles/225

    1 in 5000 boys. Cause: Mutations in the dystrophin gene. Age of Onset: Symptoms typically present between 3-5 years. Clinical Features: Common: Motor delay, gait abnormalities, frequent falls, difficulty rising from the ground. Less Common:...

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

  10. Myotonic Dystrophyhttps://cnke.org/articles/229

    can affect various systems, including: Skeletal and smooth muscle Eyes Heart Endocrine system Central nervous system The clinical spectrum ranges from mild to very severe, categorized into three overlapping phenotypes: Mild Classic Congenital Genetic...

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

  11. 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

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

    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 and delivery and without...

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

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

    Myoclonic myoclonic myoclonic atonic myoclonic tonic Clonic Tonic Atonic Focal seizures Unknown Epileptic spasms Electroclinical syndromes and other epilepsies Electroclinical syndromes arranged by age at onset Neonatal period Benign familial neonatal...

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

  14. Investigations in Movement Disordershttps://cnke.org/articles/354

    the abnormal movements in those with severe learning disability, in particular various kinds of stereotypy, do not help in clinical diagnosis and do not suggest particular neurological investigations. However, sound-startle induced falls that resemble...

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

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

    intern at the Peter Bent Brigham Hospital and later joined the Harvard Medical School faculty. His early work focused on clinical neurology and the treatment of neurological disorders. However, it was his dedication to epilepsy research that defined his...

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

  16. Investigating Lysosomal disordershttps://cnke.org/articles/163

    in lysosomal storage diseases to denote the situation in which individuals show greatly reduced enzyme activity but remain clinically healthy. Pseudodeficiencies have been reported for several lysosomal hydrolases. Pseudodeficiency is particularly...

    • Type: Article
    • Author: ICNA
    • Category: Home

  17. Rippling Muscle Disease (RMD)https://cnke.org/articles/232

    caused by mutations in the CAV3 gene, which encodes caveolin-3, a protein critical for muscle cell membrane stability. Key Clinical Features: Rippling and Mounding: Muscle mounding: Localized bulging of muscles when tapped or percussed. Rippling...

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

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

    non-kinesigenic dyskinesia (PNKD), and paroxysmal exercise-induced dyskinesia (PED) (Jankovic J & Demirkiran M, 2002). Clinical Features Lishman et al. (1962) provided a thorough and beautifully written account of PKD's clinical characteristics while...

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

  19. The Diagnosis of Rett Syndromehttps://cnke.org/articles/154

    et al.). Current Understanding: RTT is neurodevelopmental rather than degenerative. Despite advances, diagnosis remains clinical due to imperfect genotype-phenotype correlations. Overview of Clinical Features Developmental Regression (Defining Feature):...

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

  20. Rett Syndrome : Therapy prospectshttps://cnke.org/articles/159

    and atypical forms, with overlapping features in autism spectrum disorders. Challenges in Therapy: High genetic and clinical variability. Imperfect genotype-phenotype correlations. Multifunctionality of MeCP2 protein complicates targeting. Current...

    • Type: Article
    • Author: Editor
    • Category: Home
Results 41 - 60 of 157