Early Access, Editorial Material,
Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?
Affiliations
- [1] Danish Epilepsy Ctr, Dept Child Neurol, Dianalund, Denmark [NORA names: Filadelfia - Danish Epilepsy Hospital; Hospital; Denmark; Europe, EU; Nordic; OECD];
- [2] Bambino Gesu Pediat Hosp, Neurol Unit, Epilepsy & Movement Disorders, Rome, Italy [NORA names: Italy; Europe, EU; OECD];
- [3] Azienda Osped Univ Bologna, Child Neuropsychiat, IRCCS, Bologna, Italy [NORA names: Italy; Europe, EU; OECD];
- [4] Azienda Osped Univ Bologna, Child Neuropsychiat, IRCCS, Bologna, Italy [NORA names: Italy; Europe, EU; OECD];
- [5] Univ Copenhagen, Dept Clin Med, Copenhagen, Denmark [NORA names: KU University of Copenhagen; University; Denmark; Europe, EU; Nordic; OECD];
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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.