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Thursday, 17 April 2025

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Editor

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Assuming clinical is required, the following 161 results were found.

  1. The Journey of Discovery: Unraveling Fragile X Syndromehttps://cnke.org/historical-vignettes/the-journey-of-discovery-unraveling-fragile-x-syndrome

    key founders of human and medical genetics. Her career was distinguished by a unique combination of mathematical training, clinical expertise, and genetic knowledge, which allowed her to uncover important insights into human inheritance. Bell’s...

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

  2. Central Core Disease (CCD)https://cnke.org/articles/220

    (AD) with variable penetrance. Recessive inheritance recognized, especially in severe cases. De novo mutations are common. Clinical Features Typical Phenotype: Onset: Infancy. Symptoms: Weakness, hypotonia, and poor muscle bulk. Proximal musculature and...

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

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

    fibres. The size difference should be at least 35–40%, with no other major histological abnormalities present. Clinical Features: Symptoms resemble those seen in other congenital myopathies, including generalized muscle weakness and hypotonia....

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

  4. Stiff Person Syndromehttps://cnke.org/articles/235

    adults, with infrequent cases reported in children and adolescents. The condition is characterized by the following clinical and pathophysiological features: Clinical Features: Progressive Rigidity and Muscle Spasms: Predominantly involves the trunk and...

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

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

    muscle stiffness. The condition primarily affects neonates and infants, though milder forms can persist into adulthood. Clinical Features: Neonatal Stiffness: Generalized muscle rigidity, which can mimic increased tone, is often present at birth....

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

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

    like fetal MRI and ultrasound, as well as genetic testing, to assess and monitor fetal brain health and to guide clinical decisions for both prenatal and postnatal care. Early Studies: Initial focus on fetal motor activity, based on observations of...

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

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

    to distinguish transient circadian disruptions, such as those caused by temporary stress or illness, from more persistent, clinically significant disorders that require intervention. Objective documentation using sleep logs and actigraphy: Monitoring...

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

  8. Landau-Kleffner Syndromehttps://cnke.org/articles/169

    in 1957. Also, this early report did not designate if the EEG abnormalities were found in the sleep or waking record. Clinical features Among patients with LKS, 40–50% show ESES, and focal discharges were seen, especially in the frontal and temporal...

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

  9. Biju Hameedhttps://cnke.org/editors/biju-hameed

    neurologist and neurodisability consultant at Great Ormond Street Hospital for Children in London. He was also the clinical lead for pediatric neurorehabilitation and worked as a visiting consultant at Royal London Hospital as well as at the Chelsea &...

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

  10. Migrainehttps://cnke.org/articles/37

    Diagnosis of Migraine Diagnostic Process Diagnosing migraine relies on the patient's history, physical examination, and clinical judgment, as no specific diagnostic tests exist. A child with migraine should have a normal general physical examination and...

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

  11. Pantothenate Kinase-Associated Neurodegeneration (PKAN)https://cnke.org/articles/46

    role in the first regulatory step of coenzyme A biosynthesis, essential for intermediary and fatty acid metabolism. Clinical Presentation Classic Early-Onset Form: Occurs in approximately 75% of PKAN cases. Begins in infancy with slow development and...

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

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

    polyglycan inclusions (Lafora bodies). Zeka, N et al. Lafora disease: a case report. J Med Case Reports 16, 360 (2022). Clinical Testing and Work-Up Electroencephalogram (EEG) or magnetic resonance imaging (MRI) to screen for seizures and other...

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

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

    and rotated so that the chin points to the opposite side. It is a common manifestation of cervical dystonia in adults. Clinical features First recognized in 1969 by Snyder, who described 12 affected children. Onset typically occurs between 2 and 8...

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

  14. Illness Anxiety Disorder (IAD)https://cnke.org/articles/281

    Factors: Personal history of trauma or stress, personality traits such as a tendency toward anxiety. Diagnosis Clinical Assessment: Evaluation by a healthcare professional through interviews and questionnaires. Criteria: According to DSM-5,...

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

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

    computational tools. Cost: Although decreasing, the cost of WGS can still be high. Interpretation: Understanding the clinical significance of genetic variants can be complex. Ethical Considerations: Privacy: Ensuring the confidentiality of genetic...

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

  16. Cenobamatehttps://cnke.org/articles/308

    adjustments may be necessary due to the increased likelihood of hepatic, renal, or cardiac impairment in elderly patients. Clinical Studies Clinical trials have demonstrated the efficacy of cenobamate in reducing the frequency of partial-onset seizures...

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

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

    high neonatal mortality, also known as Stuve-Wiedemann syndrome, associated with LIFR gene mutation on chromosome 5p13. Clinical Features Common Characteristics:9-year-old boy with Schwartz-Jampel syndrome (Source: Basiri et al., (2015)) Short stature:...

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

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

    and bilateral congenital retinal folds. This indicates a distinct neurological phenotype associated with CDK19 variants. Clinical Features of MED12L Variants Mathilde Nizon et al. (2019) studied seven individuals with genetic changes in the MED12L gene,...

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

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

    FGS3: Mapped to Xp22.3. FGS5: Mapped to Xq22.3. MED12 gene mutation should be reserved for Opitz-Kaveggia syndrome. Clinical Features Initial descriptions included mental retardation, large head, imperforate anus, congenital hypotonia, and partial...

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

  20. Pendular Nystagmushttps://cnke.org/articles/462

    motor nuclei or vestibulocerebellar pathways. Efferent Neural Mechanisms: Impaired neural output to extraocular muscles. Clinical Presentation Visual Symptoms: Reduced visual acuity. Oscillopsia (subjective sensation of a moving visual field). Systemic...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 81 - 100 of 161