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Saturday, 12 April 2025

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Assuming sca is required, the following 63 results were found.

  1. Mitochondrial Disordershttps://cnke.org/articles/knowledge-maps/259

    Associated with the m.3243A>G mutation. Leigh Syndrome (mtDNA-associated): A progressive neurodegenerative disorder. Large-Scale Rearrangements in mtDNA Kearns-Sayre Syndrome (KSS): Progressive external ophthalmoplegia, heart block, and pigmentary...

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

  2. Neurofibromatosishttps://cnke.org/articles/283

    Cause: Most common cause of long bone pseudoarthrosis, accounting for 50-80% of cases. Other Bone Lesions: Vertebral Defects: Scalloping caused by dural ectasia. Nonossifying Fibromas: Within long bones. Sphenoid Wing Dysplasia: May present as facial...

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

  3. Spikes and Sharp Waveshttps://cnke.org/articles/30

    wave forms. Spike wave A transient, clearly distinguished from background activity, with pointed peak at a conventional time scale and duration from 20 to less than 70 ms. Amplitude varies but typically >50μV Main component is generally negative...

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

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

    with generally good prognosis is important References 1. Hirsch E, Velez A, Sellal F, Maton B, Grinspan A, Malafosse A, Marescaux C. Electroclinical signs of benign neonatal familial convulsions. Ann Neurol. 1993 Dec;34(6):835-41. doi:...

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

  5. Circadian Rhythm Sleep-Wake Disorders (CRSWD)https://cnke.org/articles/164

    advancements in actigraphy, DLMO measurement, and genetic analyses have transformed the diagnostic and therapeutic landscape for CRSWDs. Emerging technologies such as wearable devices with integrated light sensors and machine learning algorithms for...

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

  6. The History of Rett Syndromehttps://cnke.org/historical-vignettes/162

    children. Dr. Rett’s profound empathy for children with disabilities guided his research. Working in a post-war medical landscape, he was driven by a desire to uncover the underlying causes of unexplained neurodevelopmental conditions. His meticulous...

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

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

    module include MED6, MED8, MED11, MED17, MED18, MED20, and MED22. Middle Module: The middle module serves as a structural scaffold, supporting interactions between other modules and the RNA polymerase II complex. Important subunits in this module are...

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

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

    Cerebellar Degeneration: Starts at 6–18 months; ataxia prominent in toddler years. Symptoms: Truncal/gait ataxia, scanning speech, dysphagia. Wheelchair dependence by ~10 years. Movement Disorders: Chorea, dystonia, tremors, and myoclonus. Cognitive...

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

  9. Gilles De La Tourette Syndromehttps://cnke.org/articles/260

    The genetic basis of Gilles de la Tourette Syndrome [Review]. Neurosci & Biobehav Rev 37: 1026–39. Piacentini J, Woods DW, Scahill L, et al. (2010) Behavior therapy for children with Tourette Disorder: a randomized controlled trial. JAMA 303(19):...

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

  10. Infantile Spasms: Treatmenthttps://cnke.org/articles/256

    a direct inverse relationship between treatment delay and developmental outcomes (measured by Vineland Adaptive Behavior Scales - VABS). Each interval of delay beyond 7 days resulted in a 3.9-point reduction in VABS score: 8–14 days delay: Noticeable...

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

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

    showing enlarged blind spot in both eyes. Differential Diagnosis Pseudopapilloedema: Optic disc drusen (autofluorescence, B-scan ultrasonography, or OCT). Optic Neuritis: Pain with eye movements, RAPD, visual loss. Hypertensive Retinopathy: Associated...

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

  12. Schwartz-Jampel Syndrome (SJS)https://cnke.org/articles/328

    The first case of Schwartz-Jampel syndrome (SJS) or chondrodystrophic myotonia was explained in 1962 by Oscar Schwartz and Robert S. Jampel in siblings with myotonic myopathy and blepharophimosis. Classification: Type 1A: Recognized in childhood,...

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

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

    Findings: Esparham et al., 2021: Decreased headache intensity by an average of 2.55 + 2.48 points on the numeric rating pain scale in 7-18-year-old migraine patients (P

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

  14. Aphasia/Dysphasiahttps://cnke.org/articles/249

    epileptic encephalopathies like LKS. Sleep VEEG often reveals interictal epileptiform discharges. Neuroimaging: MRI or CT scans help identify strokes, infections, or trauma. Functional Brain Imaging: Evaluates recovery dynamics and hemispheric...

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

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

    literature. J Child Neurol 24: 155–60 Sanner G, Bergström B (1979) Benign paroxysmal torticollis in infancy. Acta Paediatr Scand 68: 219–23 Snyder CH (1969) Paroxysmal torticollis in infancy. A possible form of labyrinthitis. Am J Dis Child 117: 458–60...

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

  16. Lisdexamfetamine Dimesylatehttps://cnke.org/articles/148

    not be crushed, chewed, or divided. Clinical Efficacy Studies and Trials: Demonstrated significant improvement in ADHD Rating Scale (ADHD-RS) scores. Comparable or superior efficacy to other stimulant medications. Long-term trials show sustained symptom...

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

  17. Kufor-Rakeb Syndrome https://cnke.org/articles/53

    Oculogyric crises Episodes of aggression and psychosis, including frank hallucinations Imaging and Pathology MRI scans of patients with KRS often reveal generalized atrophy of the cerebrum, cerebellum, and brainstem, as well as progressive atrophy of...

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

  18. Helmet therapy for cranial deformitieshttps://cnke.org/articles/helmet-therapy-for-cranial-deformities

    beyond 12-18 months due to reduced cranial plasticity. Process Custom helmet is made after a detailed 3D cranial scan. Helmet is worn for 23 hours per day, with adjustments made as the infant grows. Average duration of treatment: 3-6 months, depending...

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

  19. Zika Virus Infectionhttps://cnke.org/articles/353

    neurologist to determine appropriate brain imaging and additional evaluation (e.g., ultrasound, computerized tomography scan, magnetic resonance imaging, and electroencephalogram). Testing for other congenital infections such as syphilis, toxoplasmosis,...

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

  20. CNS Degenerative Disorders of Childhoodhttps://cnke.org/articles/315

    Hypokinetic Dystonia Rigidity Dementia Ophthalmoplegia Rigidity Chorea frequently absent in children 50% motor seizures CT scan: "butterfly" atrophy of caudate and putamen Moderately rapid with death Refsum disease (peroxisomal disease) AR Phytanic acid...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 41 - 60 of 63