Eyelid myoclonia with absences, intellectual disability and attention deficit hyperactivity disorder: a clinical phenotype of the RORB gene mutation
Sign Up to like & getrecommendations! Published in 2021 at "Neurological Sciences"
DOI: 10.1007/s10072-020-05031-y
Abstract: Eyelid myoclonia with absences is recently included in the category of childhood epileptic syndromes. It is clinically characterized by brief seizures of eyelid myoclonia, sometimes followed by absences, and it is associated to EEG generalized… read more here.
Keywords: myoclonia; absences intellectual; myoclonia absences; gene ... See more keywords
Epilepsy With Eyelid Myoclonia (Jeavons Syndrome).
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2020.11.018
Abstract: The purpose of this review is to provide a comprehensive update and highlight the distinct electroclinical features and discuss recent advances in the etiology, pathophysiology, and management strategies of epilepsy with eyelid myoclonia. Recent studies… read more here.
Keywords: epilepsy; cortex; jeavons syndrome; epilepsy eyelid ... See more keywords
Spectrum of epilepsy with eyelid myoclonia: Delineation of disease subtypes from a large multicenter study
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia"
DOI: 10.1111/epi.17450
Abstract: Epilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much… read more here.
Keywords: eyelid myoclonia; spectrum epilepsy; myoclonia delineation; epilepsy ... See more keywords
SYNGAP1 encephalopathy
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DOI: 10.1212/wnl.0000000000008352
Abstract: Objective To delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort. Methods Patients were recruited via investigators’ practices or social media. We included patients with (likely) pathogenic SYNGAP1… read more here.
Keywords: syngap1 encephalopathy; eyelid myoclonia; epileptology; seizure ... See more keywords
Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences
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DOI: 10.1212/wnl.0000000000200165
Abstract: Background and Objectives Eyelid myoclonia (EM) with absences (EMA) is a generalized epilepsy syndrome with a prognosis and clinical characteristics that are still partially undefined. We investigated electroclinical endophenotypes and long-term seizure outcome in a… read more here.
Keywords: long term; seizure; eyelid myoclonia; remission ... See more keywords