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Wednesday, 08 January 2025

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Assuming clinical is required, the following 160 results were found.

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

    eye layer Caused by somatic mutations in the GNAQ gene, responsible for vessel and neuronal development Most frequent clinical manifestations are epileptic seizures, cognitive, and behavioral abnormalities. Seizures occur in up to: 77% of patients with...

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  2. Charcot–Marie–Tooth disease (CMT)https://cnke.org/articles/214

    in the first two decades of life. Axonal Degeneration: Affects longest fibres first, correlating with weakness severity. Clinical Presentation in Children Gait Disturbances: High-stepping gait. Difficulties running. Frequent falls or unsteadiness. Foot...

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

  3. Hereditary ataxias due to repeat expansionshttps://cnke.org/articles/186

    in specific genes. Testing for repeat expansions is recommended before Next-Generation Sequencing (NGS) analysis. Key clinical features often include cerebellar ataxia and other systemic manifestations. MRI findings can assist in the diagnosis by...

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  4. Nemaline Myopathy (NM)https://cnke.org/articles/219

    Pathogenesis: Mutations in genes encoding: Thin filament proteins of muscle. Sarcomere protein regulation components. Clinical Forms Typical Congenital NM Onset: Birth or first year of life. Features: Hypotonia, weakness, feeding difficulties. Delayed...

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    • Author: Editor CNKE
    • Category: Articles

  5. Alexander Diseasehttps://cnke.org/articles/253

    disease is a progressive disorder of cerebral white matter caused by a heterozygous pathogenic variant in the GFAP gene. Clinical Spectrum: The disease spans neonatal, infantile, juvenile, and adult forms, each with distinct clinical presentations....

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

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

    with LGS. These findings suggest that the epileptic process in LGS may initiate and sustain abnormal network behavior. Clinical Characteristics of Lennox-Gastaut Syndrome (LGS) Intellectual and Psychosocial Dysfunction Lennox-Gastaut Syndrome (LGS)...

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

  7. Familial (Autosomal Dominant) Focal Epilepsieshttps://cnke.org/articles/357

    under 10 years. Women may be affected more than men (58%). Epidemiology is unknown, but it may be a common condition. Clinical Manifestations: Seizures are generally mild, infrequent, and well controlled with antiepileptic drugs (AEDs). Seizure Types:...

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  8. Neurofibromatosishttps://cnke.org/articles/283

    Related to genetic variants other than NF2. Hallmarks of NF1: Multiple café-au-lait macules. Neurofibromas. Segmental NF1: Clinical features limited to one body area due to somatic mosaicism of a pathogenic variant in the NF1 gene. Epidemiology...

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  9. Progressive myoclonus epilepsy https://cnke.org/articles/258

    Most common forms of PME in this age group: Lafora disease Unverricht–Lundborg disease (ULD) Unverricht–Lundborg Disease Clinical Characteristics and Neurophysiology ULD is an autosomal recessive PME. Onset: Between ages 6 and 15 years, following a...

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  10. NGN-401https://cnke.org/articles/160

    risks of toxicity. Delivery Efficiency: Intrathecal or intravenous administration achieves widespread CNS distribution. Preclinical Data Studies in MECP2-deficient mouse models demonstrated significant improvements in motor coordination, respiratory...

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  11. Zika Virus Infectionhttps://cnke.org/articles/353

    Zika virus during pregnancy, the infant should be tested for Zika virus infection (Figure 1) (Box 1). In addition, further clinical evaluation and laboratory testing is recommended for the infant (Box 2). The mother should also be tested for a Zika...

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

    of the relatively large number of benign CNV in normal individuals. Early consultation should be made with a clinical geneticist. Microarray technology Conventional karyotyping detects chromosomal abnormalities of 5 Mb and larger, including balanced...

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  13. Metabolic derangements and Autismhttps://cnke.org/articles/126

    showing dramatic or no benefits, and varying degrees of bias in study design (Sathe et al., 2017). Case Studies and Clinical Recovery: Case studies revealed previously unrecognized nutritional deficiencies or food intolerances (e.g., carnitine...

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

    SMEI is named “Dravet syndrome” because of the lack of myoclonic seizures in many patients and is considered under Electroclinical syndromes [Berg et al., 2010]. Dravet syndrome is characterized by febrile and afebrile generalized and unilateral clonic...

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

    SMEI is named “Dravet syndrome” because of the lack of myoclonic seizures in many patients and is considered under Electroclinical syndromes[1]. Dravet syndrome is characterized by febrile and afebrile generalized and unilateral clonic or tonic clonic...

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  16. The Normal EEG in Childrenhttps://cnke.org/articles/25

    of two or more waveforms often creates sharply contoured waves that can be mistaken for spikes. Fortunately, most of the clinically significant EEG abnormalities in children are morphologically well defined. However, to identify abnormalities in...

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

  17. Investigations in Lysosomal Disordershttps://cnke.org/articles/467

    population. 2. Pseudodeficiency in Lysosomal Storage Diseases Definition: Individuals exhibit low enzyme activity but are clinically asymptomatic. Examples: Aryl sulfatase A (ARSA) in metachromatic leukodystrophy (MLD). Pseudo-MLD: ARSA activity reduced...

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  18. Inherited Cerebellar Ataxias (ICAs)https://cnke.org/articles/184

    primarily affecting the cerebellum Additional involvement: Often affects spinal cord and peripheral nerves Primary clinical feature: Progressive cerebellar syndrome leading to significant disability Genetic basis: Over 100 new entities described in the...

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  19. Congenital Muscular Dystrophyhttps://cnke.org/articles/224

    system involvement, affecting the brain and/or eyes Elevated serum creatine kinase (CK), which may be markedly high. Clinical Course CMD weakness is generally slowly progressive, though some children may have a static clinical course. Advances in...

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    • Author: Editor CNKE
    • Category: Articles

  20. Symptomatic drugs for migraine management evaluated in placebo-controlled and open clinical trialshttps://cnke.org/articles/316

    15 86 – – Linder et al. 2008 Almotriptan oral RCT 6.25–12.5–25 mg 12–17 866 67–73 55 Evidence level Level A: two or more clinically controlled, randomized studies carried out according to good clinical practice (GCP), versus placebo or versus active...

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Results 1 - 20 of 160