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[Revise text def] ‘epilepsy syndrome’ (MONDO:0015650) #8493

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nicolevasilevsky opened this issue Dec 13, 2024 · 1 comment
Open

[Revise text def] ‘epilepsy syndrome’ (MONDO:0015650) #8493

nicolevasilevsky opened this issue Dec 13, 2024 · 1 comment

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@nicolevasilevsky
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Mondo term (ID and Label)
‘epilepsy syndrome’ (MONDO:0015650)

Suggested revision of textual definition. Please include a source, like a PubMed ID (in the format PMID:#######)
Currently there is not definition.

Propose adding a definition based on the ILAE definiton:

An epilepsy syndrome is defined when there is a characteristic cluster of clinical and EEG features, that are often supported by specific etiological findings (structural, genetic, metabolic, immune and infectious). The diagnosis of a syndrome in an individual with epilepsy frequently carries prognostic and treatment implications. Syndromes often have age-dependent presentations and a range of specific comorbidities.
The identification of a syndrome is useful as it provides information on which underlying etiologies should be considered. Several syndromes demonstrate seizure aggravation with particular medications, which can be avoided with early diagnosis of the syndrome.
Epilepsy syndromes can be grouped by age of seizure onset and by epilepsy type. Some epilepsy syndromes are self-limited, others are associated with enduring epilepsy. Some are associated with encephalopathy and others are not.
Etiology-specific epilepsy syndromes are a work in progress, a definition can be found at link here.

Note - this needs to be refined, not added as in.

@nicolevasilevsky
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proposed def:
‘An epilepsy that is characterized by a cluster of clinical and EEG features, that are often supported by specific etiological findings (structural, genetic, metabolic, immune and infectious). The diagnosis of a syndrome in an individual with epilepsy frequently carries prognostic and treatment implications. Syndromes often have age-dependent presentations and a range of specific comorbidities.’

(I will revisit this and may revise it further)

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