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Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition

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dc.contributor.author Trivisano, Marina
dc.contributor.author Rivera, Manuel
dc.contributor.author Terracciano, Alessandra
dc.contributor.author Ciolfi, Andrea
dc.contributor.author Napolitano, Antonio
dc.contributor.author Pepi, Chiara
dc.contributor.author Calabrese, Costanza
dc.contributor.author Digilio, Maria Cristina
dc.contributor.author Tartaglia, Marco
dc.contributor.author Curatolo, Paolo
dc.contributor.author Vigevano, Federico
dc.contributor.author Specchio, Nicola
dc.date.accessioned 2021-01-28T15:45:45Z
dc.date.available 2021-01-28T15:45:45Z
dc.date.issued 2020-07
dc.identifier.citation Trivisano, M., Rivera, M., Terracciano, A., Ciolfi, A., Napolitano, A., Pepi, C., Calabrese, C., Digilio, M.C., Tartaglia, M., Curatolo, P., Vigevano, F., Specchio, N., 2020. Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition. Epilepsy Behav 108, 107097. https://doi.org/10.1016/j.yebeh.2020.107097 en_US
dc.identifier.uri https://repositorio.fleni.org.ar/handle/123456789/351
dc.identifier.uri https://doi.org/10.1016/j.yebeh.2020.107097
dc.description.abstract Seizure threshold 2 (SZT2) gene mutations have been associated with developmental and epileptic encephalopathies (DEEs). Following a literature review, we collected 22 patients and identified the main clinical features related to SZT2 variants that are epilepsy with onset within the first years of life, intellectual disability (ID), macrocephaly with dysmorphic facial features, corpus callosum (CC) shape abnormalities, and cortical migration disorders. Moreover, we identified the c.7825T>G homozygous missense variant in SZT2 in two female siblings presenting with focal seizures, mild-moderate ID, behavioral disturbances, and facial dysmorphisms. Interictal Electroencephalogram (EEG) and ictal EEG were both informative and revealed, respectively, temporal bilateral asynchronous slow and epileptiform abnormalities and a focal onset in both of them. Neuroimaging study revealed a thick and abnormally shaped CC. Seizure threshold 2 has been identified as a component of the KICSTOR complex, a newly recognized protein complex involved in the mammalian target of rapamycin (mTOR) pathway. mTOR signaling dysregulation represents common pathogenetic mechanisms that can explain the presence of both epileptogenesis and ID. Even if few cases had been reported, a new clinical phenotype is emerging, and recent hypothesis of hyperactivation of mTORC1 signaling might also open to targeted treatments, challenging an early diagnosis as of paramount importance. en_US
dc.language.iso eng en_US
dc.publisher Academic Press en_US
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by/2.5/ar/
dc.subject Encefalopatías en_US
dc.subject Brain Diseases en_US
dc.subject Epilepsia en_US
dc.subject Epilepsy en_US
dc.title Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition en_US
dc.type info:eu-repo/semantics/publishedVersion
dc.type info:eu-repo/semantics/article en_US
dc.description.fil Fil: Trivisano, Marina. Bambino Gesù Children's Hospital. Department of Neuroscience. Rare and Complex Epilepsy Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.
dc.description.fil Fil: Rivera, Manuel. Bambino Gesù Children's Hospital. Department of Neuroscience. Rare and Complex Epilepsy Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia. Fleni. Departamento de Neuropediatría; Argentina.
dc.description.fil Fil: Terracciano, Alessandra. Bambino Gesù Children's Hospital. Laboratory of Medical Genetics; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.
dc.description.fil Fil: Ciolfi, Andrea. Bambino Gesù Children's Hospital. Genetics and Rare Diseases Research Division; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.
dc.description.fil Fil: Napolitano, Antonio. Bambino Gesù Children's Hospital. Department of Imaging. Neuroradiology Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.
dc.description.fil Fil: Pepi, Chiara. Tor Vergata University. Systems Medicine Department. Child Neurology and Psychiatry Unit; Italia.
dc.description.fil Fil: Calabrese, Costanza. Bambino Gesù Children's Hospital. Department of Neuroscience. Rare and Complex Epilepsy Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.
dc.description.fil Fil: Digilio, Maria Cristina. Bambino Gesù Children's Hospital. Department of Pediatrics. Medical Genetics; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.
dc.description.fil Fil: Tartaglia, Marco. Bambino Gesù Children's Hospital. Genetics and Rare Diseases Research Division; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.
dc.description.fil Fil: Curatolo, Paolo. Tor Vergata University. Systems Medicine Department. Child Neurology and Psychiatry Unit; Italia.
dc.description.fil Fil: Vigevano, Federico. Bambino Gesù Children's Hospital. Department of Neuroscience; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.
dc.description.fil Fil: Specchio, Nicola. Bambino Gesù Children's Hospital. Department of Neuroscience. Rare and Complex Epilepsy Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.
dc.relation.ispartofVOLUME 108
dc.relation.ispartofPAGINATION 107097
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY San Diego
dc.relation.ispartofTITLE Epilepsy & behavior : E&B
dc.relation.ispartofISSN 1525-5069
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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