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Saturday, 12 April 2025

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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".

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

Assuming ataxia is required, the following 49 results were found.

  1. Common Epilepsy Geneshttps://cnke.org/articles/277

    encephalopathy KCNQ2 Benign familial neonatal seizures (BFNS) Epileptic encephalopathy KCNQ3 BFNS CACNA1A Episodic ataxia Familial hemiplegic migraine Epilepsy CACNA1H Childhood absence epilepsy KCNT1 Malignant migrating partial seizures of infancy...

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

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

    sensation of a moving visual field). Systemic Features: Neurological signs may accompany in acquired cases (e.g., ataxia in multiple sclerosis). Diagnostic Evaluation History: Age of onset: Congenital vs. acquired. Associated visual or neurological...

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

  3. Mucolipidoses and Oligosaccharidoseshttps://cnke.org/articles/469

    Gene: NEU1 Encoded Protein: α-neuraminidase Features: Progressive myoclonus, cherry-red spots, coarse facial features, ataxia. Mucolipidosis II/III (I-Cell Disease): Gene: GNPTAB, GNPTG Encoded Protein: UDP-N-acetylglucosamine-1-phosphotransferase...

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

  4. The Diagnosis of Rett Syndromehttps://cnke.org/articles/154

    or partial recovery. Neurological Features: Hand stereotypies (e.g., wringing, mouthing). Gait abnormalities (e.g., ataxia, dyspraxia). Seizures: High prevalence but variable severity. Behavioral Features: Initial autism-like behaviors, followed by...

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

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

    (premutations) were found to be at risk for Fragile X-associated conditions, including Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) in older adults and Fragile X-associated Primary Ovarian Insufficiency (FXPOI) in women. Advances in Screening and...

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

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

    acidosis, and stroke-like episodes) Leigh syndrome MERRF (Myoclonic epilepsy with ragged red fibers) NARP (Neuropathy, ataxia, and retinitis pigmentosa) Kearns-Sayre syndrome Coenzyme Q10 deficiency Pyruvate dehydrogenase complex deficiency Krebs cycle...

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

  7. Muscle Conditions with Myotonia or Myotonia-like Symptomshttps://cnke.org/articles/knowledge-maps/230

    Disease (GSD II, Pompe Disease) Other Conditions: Rippling Muscle Disease Hypothyroidism Schwartz-Jampel Syndrome Episodic Ataxia Type 1 Symptoms Mimicking Myotonia (No Clinical or Electrical Evidence of Myotonia) Conditions with symptoms resembling...

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

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

    steady state reached after 7–8 weeks. Side Effects and Toxicity Chronic Toxicity (“Bromism”): CNS-related: Lethargy, ataxia, depression, tremor, psychosis, confusion, and seizures. Dermatological: Acneiform dermatitis (bromoderma), aphthous stomatitis,...

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

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

    and neurorehabilitation in children. Within complex movement disorders, his focus is on the management of dystonia, tremor, ataxia, and spasticity in children. He has several years of expertise in the management of children with cerebral palsy, genetic...

    • Type: Article
    • Author: Editor CNKE
    • Category: Editors
Results 41 - 49 of 49