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Thursday, 09 January 2025

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Editor

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Assuming nerve is required, the following 69 results were found.

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

    Fetal neurology is a specialized branch of medicine that focuses on the study, diagnosis, and management of neurological conditions affecting the developing fetus. This field encompasses the understanding of normal fetal brain development, the...

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

  2. Fabry Diseasehttps://cnke.org/articles/472

    Overview Fabry disease: X-linked lysosomal storage disorder caused by mutations in the GLA gene. Deficiency of alpha-galactosidase A leads to accumulation of globotriaosylceramide (GL3) in tissues. Results in multi-organ disease with variable onset...

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

  3. Incontinentia Pigmentihttps://cnke.org/articles/475

    Introduction Definition: Rare X-linked genetic disorder affecting the skin, hair, teeth, nails, eyes, and CNS. Prevalence: Reported prevalence: ~1.2/100,000 in Europe. Female:Male ratio: 20:1. High penetrance with variable expressivity. Demographics:...

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

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

    Introduction GABRB3 gene is a recently identified gene located in 15q12 chromosome and encodes encodes the β3-subunit of the GABA-A receptor, a ligand-gated chloride channel. The gene is believed to share a role in inhibitory GABAergic synapses, GABA...

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

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

    NGN-401, a novel gene therapy approach, aims to address the underlying genetic cause of RTT by delivering a functional copy of MECP2 using an adeno-associated virus (AAV) vector. Rett syndrome, predominantly affecting females, is characterized by early...

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

  6. Dysarthria: Clinical featureshttps://cnke.org/articles/205

    Flaccid Dysarthria (Lower Motor Neuron Lesion) Clinical Features: Lax open mouth Atonia Weakness Wasting Drooling Feeding difficulties Absent jaw, gag, and cough reflexes Causes: Dystrophia myotonica Prader-Willi Syndrome Myasthenia gravis...

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

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

    Congenital Fibre-Type Disproportion (CFTD) is a rare congenital myopathy characterized by a disproportion in muscle fibre size. The key features and considerations for CFTD are summarized below: Overview CFTD is considered a diagnosis of exclusion. It...

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

  8. Myotonic Dystrophyhttps://cnke.org/articles/229

    Myotonic dystrophy (DM) is the most common form of myotonic myopathy, with an estimated prevalence of 1 in 7,000 people, though milder cases often go undiagnosed. Overview This multisystem disorder is inherited as an autosomal dominant trait and can...

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

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

    Hyperekplexia, also known as stiff baby syndrome, is a rare neurological disorder characterized by abnormal startle responses and muscle stiffness. The condition primarily affects neonates and infants, though milder forms can persist into adulthood....

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

  10. Crossword 2025.009https://cnke.org/crosswords/cw009

    Get ready to put your knowledge of neurology and genetics to the test! Today's crossword features clues that lead to the names of genes implicated in a variety of important neurological conditions. From genes involved in neurodevelopmental disorders to...

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

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

    diseases 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...

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

  12. Investigating Lysosomal disordershttps://cnke.org/articles/163

    feel bound to pursue the diagnosis by culturing fibroblasts and searching for sulphatide in urinary sediment and in sural nerve biopsy. Such temptations should be strongly resisted. A further consideration is activator protein deficiency, best known in...

    • Type: Article
    • Author: ICNA
    • Category: Home

  13. Ohtahara syndromehttps://cnke.org/articles/177

    and whole exome sequencing if necessary Treatment depends on management of the epilepsy. Anti-seizure medications Vagal Nerve Stimulation (VNS) Ketogenic diet Epilepsy surgery Prognosis Prognosis is universally poor Ohtahara syndrome can evolve to West...

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

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

    play a less significant role in tension-type headaches. The exact pathophysiology remains unclear but may involve trigeminal nerve activation. Characteristically, tension-type headaches present as bilateral, dull, and pressure-like pain of variable...

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

  15. Juvenile Myoclonic Epilepsyhttps://cnke.org/articles/49

    gabapentin, pregabalin, and primidone are contraindicated. Combination Therapy: Required for intractable cases, with Vagal nerve stimulation (VNS) as an option. Lifelong Treatment: Necessary with antiepileptic drugs (AEDs). Avoidance of triggers like...

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

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

    vertigo, gastroesophageal reflux, Sandifer syndrome. Dystonic reaction to drugs, ocular abnormalities (e.g., fourth cranial nerve palsies). Posterior fossa and craniocervical junction abnormalities (e.g., atlanto-axial instability, Arnold-Chiari...

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

  17. Genetic Epilepsy with Febrile Seizures Plus (GEFS+)https://cnke.org/articles/276

    genes: Encode subunits of GABAA receptor ion channels GABAA receptor channels inhibit signaling between neurons Involved in nerve signaling Effects of SCN1A Gene Mutations Variety of Effects on Sodium Channels Many mutations causing Dravet syndrome:...

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

  18. Nesprinopathieshttps://cnke.org/articles/318

    Di Fruscio G, Pastorello E, Tasca E, et al. (2015) Dominant muscular dystrophy with a novel SYNE1 gene mutation. Muscle & nerve. 51(1):145-7. Gros-Louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, et al. (2007) Mutations in SYNE1 lead to a newly...

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

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

    tunnel syndromes Malignant hyperthermia Diagnostic Findings: Normal/slightly elevated creatine kinase and aldolase Normal nerve conduction studies Electromyography: Continuous muscle activity, high frequency repetitive potentials, myotonic discharges....

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

  20. The First Description of Tay-Sachs Disease by Warren Tay, 1881https://cnke.org/historical-vignettes/117

    disease is caused by a deficiency in the enzyme hexosaminidase A, leading to the accumulation of GM2 ganglioside in nerve cells. This buildup results in the destruction of these cells, causing the severe neurological symptoms characteristic of the...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes
Results 41 - 60 of 69