ILAE Genetics Literacy series: Progressive myoclonus epilepsies.
progressive myoclonus epilepsies
Journal
Epileptic disorders : international epilepsy journal with videotape
ISSN: 1950-6945
Titre abrégé: Epileptic Disord
Pays: United States
ID NLM: 100891853
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
revised:
21
07
2023
received:
24
04
2023
accepted:
19
08
2023
medline:
7
3
2024
pubmed:
24
8
2023
entrez:
24
8
2023
Statut:
ppublish
Résumé
Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized by the development of progressively worsening myoclonus, ataxia, and seizures. A molecular diagnosis can now be established in approximately 80% of individuals with PME. Almost fifty genetic causes of PME have now been established, although some remain extremely rare. Herein, we provide a review of clinical phenotypes and genotypes of the more commonly encountered PMEs. Using an illustrative case example, we describe appropriate clinical investigation and therapeutic strategies to guide the management of this often relentlessly progressive and devastating epilepsy syndrome. This manuscript in the Genetic Literacy series maps to Learning Objective 1.2 of the ILAE Curriculum for Epileptology (Epileptic Disord. 2019;21:129).
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
670-680Subventions
Organisme : NINDS NIH HHS
ID : K23NS121520
Pays : United States
Investigateurs
Piero Perucca
(P)
J Helen Cross
(JH)
Holger Lerche
(H)
Alina I Esterhuizen
(AI)
Iscia Lopes-Cendes
(I)
Meng-Han Tsai
(MH)
Daniel H Lowenstein
(DH)
Nigel C K Tan
(NCK)
Ingo Helbig
(I)
Heather C Mefford
(HC)
Andreas Brunklaus
(A)
Gaetan Lesca
(G)
Elizabeth Emma Palmer
(EE)
Amy McTague
(A)
Faiza Fakhfakh
(F)
Norman Delanty
(N)
Daniel H Lowenstein
(DH)
Nigel C K Tan
(NCK)
Alina I Esterhuizen
(AI)
Informations de copyright
© 2023 The Authors. Epileptic Disorders published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.
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