• Home
  • Topics
  • New
  • Forum
  • Quiz
  • About

Tuesday, 07 January 2025

Main

  • Home
  • Topics
  • New
  • Forum
  • Quiz
  • About

Editor

Here are a few examples of how you can use the search feature:

Entering this and that into the search form will return results containing both "this" and "that".

Entering this not that into the search form will return results containing "this" and not "that".

Entering this or that into the search form will return results containing either "this" or "that".

Search results can also be filtered using a variety of criteria. Select one or more filters below to get started.

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

  1. USP7 related disordershttps://cnke.org/articles/147

    16p13.2 and encodes ubiquitin-specific protease 7, a key enzyme regulating protein ubiquitination and recycling. Clinical Presentation: Affects both boys and girls, with variability in severity. Common features include: Neurodevelopmental difficulties:...

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

  2. GABRB3 Mutationshttps://cnke.org/articles/152

    in the central nervous system (CNS). Faulty GABRB3 function is linked to several neurological disorders and clinical syndromes. However, the spectrum of such disorders is not yet well known Mutations in GABRB3 are emerging as a significant cause of...

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

  3. 1p21.3 microdeletion syndromehttps://cnke.org/articles/153

    1p21.3 Epidemiology Prevalence: Less than 1 in 1,000,000. Reported Cases: Fewer than 10 cases documented globally to date. Clinical Presentation Core Features: Severe speech and language delay. Intellectual disability: Borderline to mild-moderate....

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

  4. Hopkins syndromehttps://cnke.org/articles/hopkins-syndrome

    asthma exacerbations. Often conceptualized as a variant of post-viral or post-infectious myelitis, exhibiting distinctive clinical features that set it apart. Epidemiology Age of Onset: Primarily affects children, particularly those under the age of 10....

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

  5. Idiopathic Intracranial Hypertensionhttps://cnke.org/articles/178

    young women of childbearing age. Prevalence: Ranges from 0.5–2 per 100,000, increasing with the global rise in obesity. Clinical Features Main Symptoms: Headache: Frequently migrainous in phenotype; may persist after ICP normalization. Visual...

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

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

    is particularly beneficial for child neurologists and allied healthcare professionals who often need quick references in clinical settings. Streamlined Referencing Placing key references at the bottom of each article creates a centralized resource for...

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

  7. Measures for Hypertonia, Ataxia, and Ticshttps://cnke.org/articles/198

    to M-wave Ratio (H/M ratio): Quantifies reflex hyperexcitability in spasticity. Composite Spasticity Index (CSI): Combines clinical and electrophysiological measures for spasticity evaluation. Dystonia-Specific Tools Barry-Albright Dystonia Scale...

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

  8. Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)https://cnke.org/articles/215

    during meiosis is the proposed mechanism. Some cases linked to point mutations in PMP22 gene without a deletion. Clinical Features Onset: Symptoms may appear in childhood (first decade), but later onset is more typical. Common presentations:...

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

  9. Hereditary Neuralgic Amyotrophy (HNA)https://cnke.org/articles/216

    9) gene mutations in ~50% of families. Specific mutation: Arg88Trp associated with characteristic dysmorphic features. Clinical Features Pain: Intense, often the first symptom. Precedes weakness by a few days. Weakness: Typically proximal, affecting...

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

  10. Facioscapulohumeral muscular dystrophy https://cnke.org/articles/226

    by progressive, often asymmetrical muscle weakness involving the face, scapular region, and limb girdle muscles. Clinical features Primary Symptoms: Wasting of shoulder girdle with scapular winging. Facial involvement: inability to purse lips, close...

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

  11. Emery-Dreifuss Muscular Dystrophy (EDMD)https://cnke.org/articles/227

    Emery-Dreifuss muscular dystrophy (EDMD) is a rare, genetically diverse muscle disorder characterized by a distinct clinical presentation. It is associated with mutations in several genes, many of which encode proteins of the nuclear envelope. Clinical...

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

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

    recessive disorder characterized by a combination of musculoskeletal abnormalities and continuous muscle contractions. Clinical Features: Musculoskeletal Features: Chondrodysplasia: Abnormal cartilage development leads to short stature and joint...

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

  13. Childhood Apraxia of Speech (CAS) or Verbal Dyspraxiahttps://cnke.org/articles/244

    feeding are typically spared. Diagnostic Challenges: Difficult to distinguish from severe phonological speech disorders on clinical grounds. Retrospective diagnosis may rely on better progress in phonological disorders compared to CAS. Associated...

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

  14. Bromideshttps://cnke.org/articles/bromides

    Toxic effects occur above 150 mg/100 mL. Requires close monitoring due to long half-life and potential for toxicity. Clinical Indications Primary Indications: Severe, drug-resistant childhood epilepsies, particularly generalized convulsive seizures....

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

  15. Opsoclonus Myoclonus Ataxia Syndromehttps://cnke.org/articles/330

    blood or urine glucose, full blood cell count, and blood electrolytes should be monitored by standard local procedures as clinically indicated. Patients on chronic corticosteroids should receive adjunctive treatment for bone health (calcium and vitamin...

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

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

    a fresh muscle biopsy but is not well standardized for children. Genetic Testing: Tests for RYR1 and CACNA1S mutations are clinically available. Differential Diagnosis: Includes sepsis, hyperthermia, pheochromocytoma crisis, thyrotoxicosis, and...

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

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

    Do pipecolic acid also in plasma Pyridoxine-dependent epilepsy (PDE) due to α-AASA-dehydrogenase deficiency (see also Clinical Vignette 2.16.1) Acylcamitines (plasma more useful) Acute metabolic encephalopathy (plasma better) Excretion ↑↑ by carnitine...

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

  18. CNKE.ORG manual of stylehttps://cnke.org/about/183

    wiki is not an encyclopaedia of child neurology but a comprehensive clinical resource for child neurologists in practice and training. It however has a distinct style unlike scientific papers. Secondary sources are preferred over primary sources for...

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

  19. How to edit this Knowledge Basehttps://cnke.org/about/182

    for having a separate article of its own. CNKE.org Manual of Style Purpose and Style CNKE.org serves as a comprehensive clinical resource tailored for child neurologists, both in practice and in training, rather than as a traditional encyclopedia of...

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

  20. Tension-type headachehttps://cnke.org/articles/40

    month), episodic frequent (1–14 days per month), and chronic (15 or more days per month). Diagnosis is primarily based on clinical history and a normal neurological examination, including vital signs and funduscopic assessment. The differential...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 101 - 120 of 157