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dc.contributor.author
Darra, Francesca
dc.contributor.author
Monchelato, Manuela
dc.contributor.author
Loos, Mariana
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dc.contributor.author
Juanes, Matías Hernan
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dc.contributor.author
Dalla Bernardina, Bernardo
dc.contributor.author
Reyes Valenzuela, Gabriela
dc.contributor.author
Gallo, Adolfo
dc.contributor.author
Caraballo, Roberto Horacio
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dc.date.available
2023-12-11T11:04:21Z
dc.date.issued
2023-02
dc.identifier.citation
Darra, Francesca; Monchelato, Manuela; Loos, Mariana; Juanes, Matías Hernan; Dalla Bernardina, Bernardo; et al.; CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases; Elsevier Science; Epilepsy Research; 190; 2-2023; 1-11
dc.identifier.issn
0920-1211
dc.identifier.uri
http://hdl.handle.net/11336/219717
dc.description.abstract
Objective: The study was conducted to analyze the possible diagnostic value of the electroclinical semiology of the epileptic seizures. Methods: We evaluated the medical records of 17 females and 5 males with CDKL5 deficiency disorder (CDD) considering the long-term evolution, including the polygraphic video-EEG recordings. Results: We recognized three disease phases. We found that the seizure semiology was already recognizable in the first phase of the syndrome. In the short-term evolution, all patients had focal motor and 12/21 hypermotor seizures. Both epileptic spasms and myoclonic seizures were already present in more than half of the cases in the first 2 months after onset. In the second phase, the intermediate period, the polymorphic pattern was maintained, but in eight patients the electroclinical pattern of epileptic encephalopathy with hypsarrhythmia appeared. In the long-term period, the seizure polymorphism continued but myoclonic and epileptic spasms diminished. Tonic seizures appeared in the last 2 phases. Progressively, with the aggravation of seizures and paroxysmal EEG abnormalities impairment of the neurocognitive status was observed. Severe behavioral disturbances were seen in eight and autistic-like features in 14. Conclusion: CDD is a true developmental and epileptic encephalopathy with a specific etiology characterized by the early appearance of epileptic seizures that quickly become polymorphic and drug resistant in infants that are most often female and already have neurological impairment. Polygraphic video-EEG recordings are important to recognize ictal events of the association of hypermotor seizures, epileptic spasms in clusters, and massive myoclonic jerks, already present at onset.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Elsevier Science
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dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
CDKL5
dc.subject
DEVELOPMENTAL ENCEPHALOPATHY
dc.subject
EPILEPTIC SPAMS
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HYPERMOTOR SEIZURES
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HYPSARRHYTHMIA
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MYOCLONUS
dc.subject.classification
Neurología Clínica
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dc.subject.classification
Medicina Clínica
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2023-12-07T17:50:26Z
dc.journal.volume
190
dc.journal.pagination
1-11
dc.journal.pais
Países Bajos
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dc.journal.ciudad
Amsterdam
dc.description.fil
Fil: Darra, Francesca. Azienda Ospedaliera Universitaria Integrata; Italia
dc.description.fil
Fil: Monchelato, Manuela. Azienda Ospedaliera Universitaria Integrata; Italia
dc.description.fil
Fil: Loos, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
dc.description.fil
Fil: Juanes, Matías Hernan. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Dalla Bernardina, Bernardo. Azienda Ospedaliera Universitaria Integrata; Italia
dc.description.fil
Fil: Reyes Valenzuela, Gabriela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
dc.description.fil
Fil: Gallo, Adolfo. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
dc.description.fil
Fil: Caraballo, Roberto Horacio. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.journal.title
Epilepsy Research
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.eplepsyres.2023.107098
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