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Monday, 06 January 2025

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Editor

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Assuming icas is required, the following 222 results were found.

  1. Investigations in Peroxisomal Disordershttps://cnke.org/articles/466

    Peroxisomes are spherical 1pm diameter organelles with a multitude of oxidative and other enzymes packed within a single-layered membrane (http://www.peroxisomedb.org) global' peroxisomal disorders with impaired peroxisomal biogenesis (fewer or even no...

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    • Author: Editor
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  2. Rett Syndrome : Therapy prospectshttps://cnke.org/articles/159

    Genetics: RTT is an X-linked neurodevelopmental disorder primarily affecting females, caused by mutations in the MECP2 gene. Phenotypic Variability: Includes classical and atypical forms, with overlapping features in autism spectrum disorders....

    • Type: Article
    • Author: Editor
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  3. Epilepsy in Rett Syndromehttps://cnke.org/articles/156

    Introduction Prevalence: Epilepsy affects 50–70% of individuals with RTT, though earlier studies suggested rates as high as 90%. Variability in study designs and diagnostic criteria contribute to these differences. Epileptic and Nonepileptic Events:...

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    • Category: Home

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

    Helmet therapy also known as cranial orthotic therapy, uses custom-made helmets to gently reshape the skull in infants with positional cranial deformities Mechanism of Action Helmets provide passive, dynamic pressure, redirecting cranial growth toward...

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  5. Pompe Diseasehttps://cnke.org/articles/470

    Overview Definition: Pompe disease is a lysosomal storage disorder caused by defective glycogenolysis, leading to glycogen accumulation in lysosomes. Pathophysiology: Lysosome rupture leads to tissue damage. Primarily affects skeletal and cardiac...

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    • Author: Editor
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  6. Stiff Person Syndromehttps://cnke.org/articles/235

    Stiff Person Syndrome (SPS) is a rare neurological disorder typically affecting adults, with infrequent cases reported in children and adolescents. The condition is characterized by the following clinical and pathophysiological features: Clinical...

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

  7. Malignant Hyperthermiahttps://cnke.org/articles/238

    Malignant hyperthermia (MH) is a life-threatening pharmacogenomic disorder triggered by certain anesthetic agents (e.g., halothane) or depolarizing muscle relaxants like succinylcholine. These agents cause uncontrolled calcium release in skeletal...

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

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

    Aphasia/Dysphasia Acquired disruption of language function (expressive or receptive/mixed). Can be fluent or non-fluent. Causes: Brain trauma, stroke, cerebral infections (e.g., herpes simplex encephalitis), neoplasms, and neurodegenerative diseases...

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

  9. Glasgow Coma Scalehttps://cnke.org/articles/306

    ActivityScore Infant (1-12m) Score Child (1y+) Eye opening 4 spontaneously 4 spontaneously 3 to speech 3 to command 2 to pain 2 to pain 1 no response 1 no response Best verbal response 5 coos, babbles 5 oriented 4 irritable, cries 4 confused 3 cries to...

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

    Overview Most prevalent lysosomal storage disorder. Elevated incidence in Ashkenazi Jews (6% carrier frequency). Autosomal recessive inborn error of metabolism. Caused by mutations in the GBA1 gene, leading to deficient glucocerebrosidase activity....

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  11. 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,...

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  12. Aicardi-Goutières syndromehttps://cnke.org/topics/aicardi-goutieres-syndrome

    • Type: Tag
    • Author: Editor

  13. Join the Child Neurology Wiki Editorial Team!https://cnke.org/about/join-the-editorial-team

    Are you a professional dedicated to advancing the field of child neurology? Do you have a passion for sharing knowledge and contributing to a global community? If so, the We invite you to join the Child Neurology Wiki editorial team! Why Become a Child...

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

  14. Developmental Milestones (Birth to 8 Years)https://cnke.org/articles/166

    Newborn (0–1 Month) Gross Motor: Flexed posture Turns head to side while lying prone Momentary head control in upright position Fine Motor: Hands predominantly fisted Reflexive grasp Social/Emotional: Prefers human faces Cries to communicate needs...

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    • Category: Home

  15. Insomnia in childrenhttps://cnke.org/articles/242

    Overview Insomnia, or difficulty in sleeping, is a common issue among young children, with approximately 30% experiencing periods of sleep disturbances before the age of five. This often manifests as difficulty falling asleep or staying asleep....

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  16. Genes implicated in neurotransmitter disordershttps://cnke.org/articles/279

    These genes are implicated in various neurotransmitter-related disorders, affecting the synthesis, release, transport, and degradation of neurotransmitters. Serotonin Pathway Disorders TPH2 (Tryptophan hydroxylase 2) Associated with serotonin...

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    • Category: Home

  17. Pyridoxal 5 Phosphate Dependent Epilepsyhttps://cnke.org/articles/31

    PNPO deficiency (OMIM 6032870) is an autosomal recessive inborn error of metabolism that leads to a seizure disorder, presenting in the newborn period (neonatal epileptic encephalopathy) or early infancy, that can be treated with pyridoxal 5’-phosphate...

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

  18. Why a Lecture Notes Style Knowledgebase on Child Neurology?https://cnke.org/about/180

    The CNKE favours a lecture notes style approach for its articles for Clarity and Readability Inline citations can disrupt the flow of reading, especially for topics that require a step-by-step understanding of complex concepts. A lecture notes-style...

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    • Author: Editor
    • Category: About

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

    The Cherry Red Spot refers to the appearance of a red-tinted region at the center of the macula surrounded by retinal opacification, usually present due to the thickening and loss of transparency of the posterior pole of the retina. The differential...

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    • Category: Image of the Week

  20. Schwartz–Jampel Syndromehttps://cnke.org/articles/237

    Schwartz–Jampel Syndrome (SJS) is a rare autosomal recessive disorder characterized by a combination of musculoskeletal abnormalities and continuous muscle contractions. Clinical Features: Musculoskeletal Features: Chondrodysplasia: Abnormal cartilage...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 141 - 160 of 222