Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?
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Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy : Two sides of the same coin or same side of two different coins? / Di Micco, Valentina; Affronte, Leonardo; Khinchi, Marianne Søndergaard; Rønde, Gitte; Miranda, Maria Jose; Hammer, Trine Bjørg; Specchio, Nicola; Beniczky, Sándor; Olofsson, Kern; Møller, Rikke S.; Gardella, Elena.
In: Epileptic Disorders, 2024.Research output: Contribution to journal › Comment/debate › Research › peer-review
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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 -
ID: 393840542