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Wednesday, 08 January 2025

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Editor

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Assuming icas is required, the following 223 results were found.

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

    Terminology The Infantile Spasms Syndrome (ISs) belongs to the group of “early epileptic encephalopathies” (EEE), characterized by severe, drug-resistant epileptic disorders, with onset in early life, associated to persistent EEG abnormalities and...

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

    Charcot–Marie–Tooth disease (CMT) refers to a group of genetically heterogeneous disorders affecting peripheral nerve function. Charcot–Marie–Tooth disease (CMT) Definition: Charcot–Marie–Tooth disease (CMT) refers to a group of genetically...

    • Type: Article
    • Author: Editor CNKE
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  3. 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...

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

    Alexander disease is a rare neurodegenerative disorder caused by mutations in the glial fibrillary acidic protein, a type III intermediate filament protein expressed in astrocytes. Introduction Definition: Alexander disease is a progressive disorder of...

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    • Author: Editor CNKE
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  5. Progressive myoclonus epilepsy https://cnke.org/articles/258

    Introduction Progressive Myoclonus Epilepsy (PME) with onset between late childhood and late adolescence includes several conditions: Neuronal ceroid lipofuscinosis Type I sialidosis Myoclonic epilepsy with ragged red fibers Most common forms of PME in...

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

    Disruption at any of the stages in metabolism could contribute to primary and/or secondary contributions to ASD Possible Role for Metabolism in the Pathogenesis of ASD Overview of Metabolism: Metabolism encompasses biochemical processes for: Converting...

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    • Author: Editor CNKE
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  7. Migraine in childhoodhttps://cnke.org/articles/358

    Review of acute and preventative pharmacologic and non-pharmacologic treatment of pediatric migraine, including recent or ongoing clinical trials. Index Acute Treatment of Migraine in Pediatrics: Guidelines and Recommendations Guidelines Overview...

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  8. 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...

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  9. 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...

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

    Aedes albopictus mosquitoes. Aedes aegypti and Aedes albopictus mosquitoes, found throughout much of the Region of the Americas, including parts of the United States, also transmit dengue and chikungunya viruses (CDC, 2015). Zika virus infections result...

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

    Introduction Paediatric EEG Normal Awake 3-12 months 14 months-2years 3-4 years 5-10 years 11-16 years Hyperventilation Normal Drowsiness, Sleep, Arousal Drowsy patterns Burst Drowsy Patterns V Waves Spindles V Waves and Spindles Positive Occipital...

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    • Author: Editor CNKE
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  12. Neurofibromatosishttps://cnke.org/articles/283

    Introduction Forms of Neurofibromatosis: Neurofibromatosis Type 1 (NF1): Previously known as von Recklinghausen disease, the most common type. NF2-related Schwannomatosis (NF2): Formerly neurofibromatosis type 2. Schwannomatoses: Related to genetic...

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  13. Speech and Language developmental disordershttps://cnke.org/articles/243

    Definition and Components of Language and Speech Language: A communication system acquired through use, involving symbols sequenced to share attention and ideas. Speech: One mechanism for expressing language, but other methods like gestures, sign...

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    • Author: Editor CNKE
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  14. Aicardi-Goutières syndromehttps://cnke.org/articles/175

    Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy characterized by the inappropriate induction of a type I interferon-mediated immune response and usually results in severe cognitive and physical morbidities. It is named after Jean Aicardi...

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  15. Migrainehttps://cnke.org/articles/37

    Overview Migraines are severe, often bilateral, throbbing headaches commonly located in the temples or frontal regions of the head. They affect different age groups with varying prevalence rates: 2-5% in preschool children, 10% in school-aged children,...

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    • Author: Editor CNKE
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  16. Hereditary ataxias due to repeat expansionshttps://cnke.org/articles/186

    Hereditary ataxias are caused by repeat expansions 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...

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

    Overview: Temporal lobe epilepsy was traditionally considered an acquired condition. Causes include lesions such as: Hippocampal sclerosis Tumours Trauma Vascular malformations Malformations of cortical development Recent research has highlighted the...

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

    Comparitive genomic hybridization (CGH) or Chromosomal microarray analysis(CMA) is a modern cytogenetic technique for analyzing variations in DNA copy-number. Alteration in DNA copy number is one of the many ways in which modification of gene...

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  19. Ion channel disordershttps://cnke.org/articles/231

    Ion channel disorders, or channelopathies, are a group of conditions that involve dysfunctions in ion channels—integral membrane proteins regulating the flow of ions across cellular membranes. In skeletal muscle, these disorders variably produce...

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  20. Duchenne Muscular Dystrophyhttps://cnke.org/articles/225

    Duchenne muscular dystrophy (DMD), followed by Becker muscular dystrophy (BMD) and the relatively new phenotype DMD associated dilated cardiomyopathy (DCM) are among the most recognized of a group of X-linked muscle disorders called dystropinopathies....

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Results 1 - 20 of 223