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Monday, 06 January 2025

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Editor

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Assuming sca is required, the following 59 results were found.

  1. Lennox-Gastaut Syndrome (LGS)https://cnke.org/articles/50

    rare. Brain magnetic resonance imaging (MRI) is a crucial diagnostic tool for identifying the etiology of LGS. Modern 3-T MRI scanners and sequences can detect subtle abnormalities in patients with LGS, even when previous brain MRI scans were...

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

  2. Infantile Spasms Syndromehttps://cnke.org/articles/269

    may trigger ISs. Observations indicate that some genes involved in ISs pathogenesis also play crucial roles in inflammatory cascades and signaling pathways [91]. Genetic Involvement: Lemke et al. [31]: Reported mutations in the GRIN2B gene in two...

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

  3. Biochemical investigations in Urinehttps://cnke.org/articles/167

    is necessary Uracil Childhood encephalopathy Blood ammonia ± urine orotic acid may be normal ↑ in late-onset ornithine transcarbamylase (OTC) deficiency Urate Early seizures ± opisthotonus. Early acquired movement disorder with motor delay and high or...

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

  4. Investigations - Urine Biochemistryhttps://cnke.org/articles/291

    is necessary Uracil Childhood encephalopathy Blood ammonia ± urine orotic acid may be normal ↑ in late-onset ornithine transcarbamylase (OTC) deficiency Urate Early seizures ± opisthotonus. Early acquired movement disorder with motor delay and high or...

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

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

    may help in certain cases. Homocystinuria: Responsive to pyridoxine (B6) or B12, depending on the subtype. Ornithine transcarbamylase (OTC) deficiency: Treated with arginine and citrulline, but folate can be used in adjunct. Nonketotic hyperglycinemia...

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

  6. Neurometabolic Disordershttps://cnke.org/articles/knowledge-maps/209

    of Urea Cycle Metabolism Primary urea cycle disorders: Carbamoyl phosphate synthetase I (CPSI) deficiency Ornithine transcarbamylase (OTC) deficiency Argininosuccinate lyase deficiency Argininosuccinate synthetase deficiency (Citrullinemia type I)...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles (open)

  7. Neuromuscular disorders in childrenhttps://cnke.org/articles/knowledge-maps/195

    Dystrophy (DMD) Becker Muscular Dystrophy Limb-Girdle Muscular Dystrophies (LGMD) Emery-Dreifuss Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy (FSHD) Congenital Muscular Dystrophies (CMD) Merosin-deficient CMD Collagen VI-related CMD (e.g.,...

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

  8. Dysarthria: Clinical featureshttps://cnke.org/articles/205

    difficulties Absent jaw, gag, and cough reflexes Causes: Dystrophia myotonica Prader-Willi Syndrome Myasthenia gravis Facio-scapulo-humeral dystrophy Congenital dysplasia of the brainstem (e.g., Moebius) Pontine gliomas Progressive motor neurone...

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

  9. Acquired Dysarthriahttps://cnke.org/articles/247

    difficulties Absent jaw, gag, and cough reflex Causes: Dystrophia myotonica Prader-Willi Syndrome Myasthenia Gravis Facio-scapulo-humeral dystrophy Congenital dysplasia of the brainstem (e.g., Moebius syndrome) Pontine gliomas Progressive motor neuron...

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

  10. Multiminicore Diseasehttps://cnke.org/articles/multiminicore-disease

    (Myosin Heavy Chain 7): Associated with core myopathies and cardiomyopathy. Clinical features may include: Limb-girdle or scapuloperoneal weakness. Cardiac involvement requiring monitoring. TTN (Titin): Rarely associated with core myopathies. Mutations...

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

  11. Dravet syndromehttps://cnke.org/articles/180

    shifts from one discharge to the next, according to the muscle used as trigger, with an interside latency consistent with transcallosal spread. Thus, there is some evidence that myoclonus in SME can originate, like the other seizures, from multiple...

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    • Author: Editor
    • Category: Home

  12. Dravet syndromehttps://cnke.org/articles/265

    shifts from one discharge to the next, according to the muscle used as trigger, with an interside latency consistent with transcallosal spread. Thus, there is some evidence that myoclonus in SME can originate, like the other seizures, from multiple...

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

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

    Traumatic Brain Injury (TBI): Its neuroprotective and anti-inflammatory effects hold promise in reducing secondary injury cascades post-TBI. Clinical Trials and Efficacy Recent Phase III clinical trials in Rett Syndrome have highlighted the safety and...

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

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

    Pfeiffer RF (2007) Wilson's Disease.Semin Neurol 27 (2):123-32. DOI: 10.1055/s-2007-971173 PMID:17390257. Neville BG, Parascandalo R, Farrugia R, Felice A (2005) Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive...

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

  15. Fetal Neurologyhttps://cnke.org/articles/355

    of aborted human fetuses. 1837: Erbkam publishes the first descriptions of fetal movements from observations of spontaneous miscarriages. 1930s: Pittsburgh anatomist Davenport Hooker studies and films the activity of human fetuses from clinically...

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

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

    expression and function occurs. The technology was initially used for studying chromosomal imbalances in solid tumours. Large-scale copy number variations in the human genome leading to chromosomal imbalances comprise approximately 12% of the entire...

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

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

    WGS into routine clinical practice for better patient care. Notable Projects: Human Genome Project: The first large-scale WGS project, completed in 2003, mapping the entire human genome. 1000 Genomes Project: Aimed to create a comprehensive catalog of...

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

  18. Sleep issues in Rett Syndromehttps://cnke.org/articles/158

    anxiety and cyclic premenstrual cramps can improve sleep. Research and Future Directions: Research Gaps: Limited large-scale studies on sleep architecture in RTT. Need for trials comparing RTT sleep patterns with well-characterized cohorts. Focus Areas:...

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

  19. 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
    • Category: Home

  20. 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
Results 21 - 40 of 59