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Wednesday, 08 January 2025

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Editor

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Assuming rare is required, and disorder is required, the following 84 results were found.

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

    Overview Spectrum of Seizure Disorders Varying severity Diagnosed in families with: Febrile seizures (triggered by high fever) Recurrent seizures (epilepsy) of other types, including afebrile seizures Seizure Types: Generalized seizures Partial...

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

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

    Definition and Cause Nuclear envelopathies are diseases resulting from mutations in genes encoding parts of the inner nuclear membrane, nuclear lamina, and outer nuclear membrane. Key components include Emerin, MAN1, LAP2, LBR, Lamins A and C, Lamins...

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

  3. Acquired Dysarthriahttps://cnke.org/articles/247

    Dysarthria is a speech articulation impairment affecting intelligibility, particularly through consonant production. It can also disrupt phonation, resonation, and prosody, leading to slurred, effortful speech. Dysarthria is often associated with...

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

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

    Lennox-Gastaut Syndrome (LGS) was first characterized by Dr. William G. Lennox as a form of epilepsy known as a "Petit mal variant." In 1966, the Marseille School in France provided a more detailed description of the syndrome. Dr. Henri Gastaut and his...

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

  5. Rare Treatable Disordershttps://cnke.org/topics/rare-treatable-disorders

    • Type: Tag
    • Author: Editor

  6. Investigations, rare treatable disordershttps://cnke.org/topics/investigations-rare-treatable-disorders

    • Type: Tag
    • Author: Editor

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

    Introduction Definition: USP7-related disorder, also known as Hao-Fountain Syndrome (HFOUS), results from pathogenic variants or deletions in the USP7 gene. The USP7 gene is located on chromosome 16p13.2 and encodes ubiquitin-specific protease 7, a key...

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

  8. 1p21.3 microdeletion syndromehttps://cnke.org/articles/153

    1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder Definition 1p21.3 microdeletion syndrome is a rare chromosomal anomaly...

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

  9. Ataxia Telangiectasia (AT)https://cnke.org/articles/151

    Introduction Definition: Ataxia Telangiectasia (AT) is a rare neurocutaneous disorder caused by biallelic pathogenic variants in the ATM gene. Core Manifestations: Cerebellar ataxia in early toddler years. Oculocutaneous telangiectasias in school-aged...

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

  10. Pantothenate Kinase-Associated Neurodegeneration (PKAN)https://cnke.org/articles/46

    Overview Pantothenate kinase-associated neurodegeneration (PKAN) is a rare form of neurodegeneration with brain iron accumulation (NBIA), with an estimated prevalence of 1:1,000,000 (Hayflick et al., 2006). PKAN is caused by mutations in the PANK2 gene...

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

  11. CNS Degenerative Disorders in Infancyhttps://cnke.org/articles/314

    Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Somatic Findings Motor Findings Seizures Labs Clinical Course White matter Globoid (Krabbe) leukodystrophy Recessive galactocerebroside β-galactosidase deficiency....

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

  12. Glycosylphosphatidylinositol Anchor Disordershttps://cnke.org/topics/glycosylphosphatidylinositol-anchor-disorders

    Glycosylphosphatidylinositol (GPI)-related disorders are a group of rare genetic conditions caused by problems in the way certain proteins attach to the surface of cells in the body. When the GPI anchor doesn't work properly, the proteins can't stay...

    • Type: Tag
    • Author: Editor

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

    Severe myoclonic epilepsy in infancy (SME) was described by Charlotte Dravet in 1978. In the Revised ILAE classification of epilepsies, the SMEI is named “Dravet syndrome” because of the lack of myoclonic seizures in many patients and is considered...

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

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

    Severe myoclonic epilepsy in infancy (SME) was described by Charlotte Dravet in 1978. In the Revised ILAE classification of epilepsies, the SMEI is named “Dravet syndrome” because of the lack of myoclonic seizures in many patients and is considered...

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

  15. Early myoclonic encephalopathyhttps://cnke.org/articles/267

    Overview Early myoclonic encephalopathy is a syndrome characterized by: Frequent intractable seizures Severe early encephalopathy Limited development and reduced life expectancy Frequent myoclonic seizures distinguish this syndrome from Ohtahara...

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

  16. Chronic Daily Headache Disorderhttps://cnke.org/articles/39

    Definition and Prevalence Chronic daily headache is diagnosed based on the presence of headaches occurring for 15 or more days per month, over a period of three consecutive months, without any underlying organic pathology. These headaches last for more...

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

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

    In 1881, British ophthalmologist Warren Tay published his groundbreaking observation of a cherry-red spot on the retina of a child suffering from a neurological disorder. This momentous discovery marked the first description of what would later be...

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

  18. Investigations in Rare Treatable Disordershttps://cnke.org/articles/289

    Investigations and Management of Rare Treatable Neurological Disorders 1. AR-GCH1 Deficiency Without Hyperphenylalaninaemia Presentation: Resembles cerebral palsy, oculogyric crises, tremulousness, bradykinesia. Key Investigations: Phenylalanine...

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

  19. Trofinetidehttps://cnke.org/articles/161

    Trofinetide is a synthetic analogue of glycine-proline-glutamate (GPE), an amino-terminal tripeptide derived from insulin-like growth factor-1 (IGF-1). It is emerging as a promising therapeutic agent for neurodevelopmental and neurodegenerative...

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

  20. Lisdexamfetamine Dimesylatehttps://cnke.org/articles/148

    Lisdexamfetamine Dimesylate Brand Names: Vyvanse, Elvanse. Drug Class: Prodrug stimulant. Mechanism of Action: Lisdexamfetamine is a prodrug of d-amphetamine. Activated enzymatically in the bloodstream to d-amphetamine. Increases availability of...

    • Type: Article
    • Author: Editor
    • Category: Home
Results 21 - 40 of 84