content:epileptic_encephalopathies

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content:epileptic_encephalopathies [2020/02/16 22:29] – [Epileptic encephalopathies] icnacontent:epileptic_encephalopathies [2022/04/30 11:54] (current) – changed pubmed syntax administrator@icnapedia.org
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 ====== Epileptic encephalopathies ====== ====== Epileptic encephalopathies ======
-Epileptic encephalopathies are a heterogenous group of conditions where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone (e.g., cortical malformation), and that these can worsen over time”[(:cite:20196795>{{pubmed>short:20196795}})]. According to the ILAE commission (2017)[(:cite:28276062>{{pubmed>short:28276062}})] “in an epileptic encephalopathy, the abundant epileptiform activity interferes with development resulting in cognitive slowing and often regression, and sometimes is associated with psychiatric and behavioural consequences” and that the encephalopathic impact of the epileptiform activity could cause regression in patients with both normal development and pre-existing developmental delay, who then show developmental plateauing or regression.+Epileptic encephalopathies are a heterogenous group of conditions where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone (e.g., cortical malformation), and that these can worsen over time”[(:cite:20196795>{{pmid>long:20196795}})]. According to the ILAE commission (2017)[(:cite:28276062>{{pmid>long:28276062}})] “in an epileptic encephalopathy, the abundant epileptiform activity interferes with development resulting in cognitive slowing and often regression, and sometimes is associated with psychiatric and behavioural consequences” and that the encephalopathic impact of the epileptiform activity could cause regression in patients with both normal development and pre-existing developmental delay, who then show developmental plateauing or regression. The disorders are usually refractory to standard antiepileptic drugs (AEDs).
  
-The recognized epileptic encephalopathies currently are +The report of the International League Against Epilepsy (ILAE) Task Force on classification and terminology includes 8 syndromes under epileptic encephalopathies:
   * [[Early Myoclonic Encephalopathy]]   * [[Early Myoclonic Encephalopathy]]
   * [[Early Infantile Epileptic Encephalopathy]] ([[Ohtahara Syndrome]])   * [[Early Infantile Epileptic Encephalopathy]] ([[Ohtahara Syndrome]])
   * [[Epilepsy of infancy with migrating focal seizures]]   * [[Epilepsy of infancy with migrating focal seizures]]
-  * [[West Syndrome]], [[Dravet Syndrome]]+  * [[West Syndrome]] 
 +  * [[Dravet Syndrome]]
   * [[Epilepsy with Myoclonic Astatic Seizures]]   * [[Epilepsy with Myoclonic Astatic Seizures]]
   * [[Lennox-Gastaut Syndrome]]   * [[Lennox-Gastaut Syndrome]]
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 ==== Presenting with seizures associated with a syndromic phenotype ==== ==== Presenting with seizures associated with a syndromic phenotype ====
-  * **Chromosomopathies**+  * **Chromosomal abnormalities**
     * [[1p36 monosomy]]     * [[1p36 monosomy]]
     * [[Wolf-Hirschhorn syndrome]]     * [[Wolf-Hirschhorn syndrome]]
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