TY - JOUR

T1 - Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy

T2 - Two sides of the same coin or same side of two different coins?

AU - Di Micco, Valentina

AU - Affronte, Leonardo

AU - Khinchi, Marianne Søndergaard

AU - Rønde, Gitte

AU - Miranda, Maria Jose

AU - Hammer, Trine Bjørg

AU - Specchio, Nicola

AU - Beniczky, Sándor

AU - Olofsson, Kern

AU - Møller, Rikke S.

AU - Gardella, Elena

N1 - Publisher Copyright: © 2024 The Author(s). Epileptic Disorders published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.

PY - 2024

Y1 - 2024

N2 - 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.

AB - 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.

KW - CACNA1E gene

KW - developmental delay

KW - EEG characterization

KW - epileptic encephalopathy not otherwise classified

KW - focal seizure not otherwise specified

KW - frontal premotor mesial

KW - genetic disorder

KW - movement disorder

KW - posterior cortex (bilateral)

KW - tonic seizure

KW - tonic seizures

U2 - 10.1002/epd2.20242

DO - 10.1002/epd2.20242

M3 - Comment/debate

C2 - 38780451

AN - SCOPUS:85193961483

JO - Epileptic Disorders

JF - Epileptic Disorders

SN - 1294-9361

ER -