Abstract
Pathogenic variants in CACNA1E are associated with early-onset epileptic and developmental encephalopathy (DEE). Severe to profound global developmental delay, early-onset refractory seizures, severe hypotonia, and macrocephaly are the main clinical features. Patients harboring the recurrent CACNA1E variant p.(Gly352Arg) typically present with the combination of early-onset DEE, dystonia/dyskinesia, and contractures. We describe a 2-year-and-11-month-old girl carrying the p.(Gly352Arg) CACNA1E variant. She has a severe DEE with very frequent drug-resistant seizures, profound hypotonia, and episodes of dystonia and dyskinesia. Long-term video-EEG-monitoring documented subsequent tonic asymmetric seizures during wakefulness and mild paroxysmal dyskinesias of the trunk out of sleep which were thought to be a movement disorder and instead turned out to be focal hyperkinetic seizures. This is the first documented description of the EEG findings in this disorder. Our report highlights a possible overlap between cortical and subcortical phenomena in CACNA1E-DEE. We also underline how a careful electro-clinical evaluation might be necessary for a correct discernment between the two disorders, playing a fundamental role in the clinical assessment and proper management of children with CACNA1E-DEE.
Original language | English |
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Journal | Epileptic Disorders |
Volume | 26 |
Issue number | 4 |
Pages (from-to) | 520-526 |
ISSN | 1294-9361 |
DOIs |
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Publication status | Published - 2024 |
Bibliographical note
Publisher Copyright:© 2024 The Author(s). Epileptic Disorders published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.
Keywords
- CACNA1E gene
- developmental delay
- EEG characterization
- epileptic encephalopathy not otherwise classified
- focal seizure not otherwise specified
- frontal premotor mesial
- genetic disorder
- movement disorder
- posterior cortex (bilateral)
- tonic seizure
- tonic seizures