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DOI: 10.1055/s-0042-1759540
Epilepsy in Joubert Syndrome: A Still Few Explored Matter
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Abstract
Epilepsy is rarely associated with Joubert's syndrome and related disorders (JSRD), being reported only in 3% of cases. Few patients have been described, moreover, with poor evidences of specific seizures' semiology or standard of practice for pharmacological treatment. Epilepsy is likely to be related to brain malformations in ciliopathies. Beyond the typical hindbrain malformation, the molar tooth sign, other cerebral anomalies variably reported in JSRD, such as generalized polymicrogyria, hamartomas, periventricular nodular heterotopia, and hippocampal defects, have been described. Herein, we aimed to revise the main clinical and etiopathogenetic characteristics of epilepsy associated with JSRD.
Authors' Contribution
G.D.R. conceptualized the study; A.P. and A.S. investigated the study; resource collection was done by G.A. and G.I.; data curation was done by G.S. and D.D.; V.S. wrote the original draft preparation; writing—review and editing was done by A.C.; and E.P. and G.F. supervised the study. All authors have read and agreed to the published version of the manuscript.
Data Availability Statement
The data presented in this study are available on request from the corresponding author.
Publikationsverlauf
Eingereicht: 23. August 2022
Angenommen: 27. Oktober 2022
Artikel online veröffentlicht:
05. Januar 2023
© 2023. Thieme. All rights reserved.
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