Mostrar el registro sencillo del ítem
dc.contributor.author
Caraballo, Roberto Horacio
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.contributor.author
Guzman, Ariel
dc.contributor.author
Beltran, Lucas
dc.contributor.author
Espeche, Alberto Antonio
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.date.available
2024-03-27T12:24:23Z
dc.date.issued
2024-02
dc.identifier.citation
Caraballo, Roberto Horacio; Guzman, Ariel; Beltran, Lucas; Espeche, Alberto Antonio; Cerebral hemiatrophy and hemiparesis following hemiclonic status epilepticus in Dravet syndrome; John Wiley & Sons; Epileptic Disorders; 26; 1; 2-2024; 121-125
dc.identifier.uri
http://hdl.handle.net/11336/231676
dc.description.abstract
Dravet syndrome is currently considered as an developmental and epileptic encephalopathy and, recently, mandatory, alert, and exclusionary criteria have been proposed. Here, we describe three patients with Dravet syndrome with the typical early presentation including febrile and afebrile alternating hemiclonic seizures due to loss-of-function SCN1A variants. Subsequently, they developed episodes of febrile focal status epilepticus (SE) associated with hemiparesis and cerebral hemiatrophy with posterior focal seizures, as a consequence of Dravet syndrome. This sequence of events has been previously published in patients with Dravet syndrome and does not contradict the recent classification by the International League Against Epilepsy (ILAE). The ILAE guidance identifies "Focal neurological findings" as alert criteria and "MRI showing a causal focal lesion" as exclusionary criteria for making an initial diagnosis of Dravet syndrome at presentation. Our three patients would correspond to a severe phenotype, similar to the well-known presentation of generalized atrophy following prolonged status epilepticus. Common genetic findings in cases of diffuse and unilateral brain involvement may help explain these clinical presentations. Further genotype-phenotype studies may provide additional insights into this electroclinical behavior.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
John Wiley & Sons
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Dravet syndrome
dc.subject
SCN1A mutation
dc.subject
Cerebral hemiatrophy
dc.subject
Focal status epilepticus
dc.subject
Hemiparesis.
dc.subject.classification
Neurología Clínica
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.subject.classification
Medicina Clínica
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.title
Cerebral hemiatrophy and hemiparesis following hemiclonic status epilepticus in Dravet syndrome
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2024-03-26T13:36:07Z
dc.identifier.eissn
1950-6945
dc.journal.volume
26
dc.journal.number
1
dc.journal.pagination
121-125
dc.journal.pais
Estados Unidos
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.journal.ciudad
Nueva York
dc.description.fil
Fil: Caraballo, Roberto Horacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
dc.description.fil
Fil: Guzman, Ariel. Gobierno de la Provincia de Salta. Hospital Publico Materno Infantil.; Argentina
dc.description.fil
Fil: Beltran, Lucas. Provincia de Chaco. Hospital Pediátrico Dr. Avelino Castelán; Argentina
dc.description.fil
Fil: Espeche, Alberto Antonio. Gobierno de la Provincia de Salta. Hospital Publico Materno Infantil.; Argentina
dc.journal.title
Epileptic Disorders
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/epd2.20170
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1002/epd2.20170
Archivos asociados