{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T12:17:09Z","timestamp":1783081029016,"version":"3.54.6"},"reference-count":32,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T00:00:00Z","timestamp":1765152000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Infantile epileptic spasms syndrome (IESS) is a group of severe encephalopathies during infancy. In recent years, the search for genetic causes has gained importance. This study aimed to describe the genetic causes of IESS in children &lt;2 years of age with access to diagnostic studies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>A case series study was conducted in 6 pediatric neurology centers in Peru. Medical record data of children &lt;2 years of age diagnosed with IESS were assessed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Fifty-five cases were included, with a median age at diagnosis of 6 months, predominantly male (58.12%, n\u2009=\u200932), and from Lima (52.73%, n\u2009=\u200931). The predominant etiologic category was genetic-structural (38.18%, n\u2009=\u200921), with tuberous sclerosis standing out, followed by structural-congenital (30.90%, n\u2009=\u200917), genetic (27.27%, n\u2009=\u200915), and metabolic (3.63%, n\u2009=\u20092). All presented mixed neurodevelopmental delay, most of them of severe grade (63.64%, n\u2009=\u200935). The predominant electroencephalographic pattern was hypsarrhythmia (67.27%, n\u2009=\u200937). Vigabatrin was the most frequently used control medication (54.55%, n\u2009=\u200930). A total of 58.18% (n\u2009=\u200932) progressed to some type of epilepsy, whereas 23.64% (n\u2009=\u200913) controlled spasms. Twenty-four variants in 21 different genes and 2 chromosomal alterations were found.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Genetic etiology was common and diverse in IESS. The genetic-structural category was the most frequent, followed by the structural-congenital category. A wide range of genetic variants was found in one-third of the cases. Prompt genetic identification in IESS is recommended to optimize treatment and improve the prognosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/08830738251399269","type":"journal-article","created":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T18:07:19Z","timestamp":1765217239000},"page":"994-1005","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Etiology of Infantile Spasms in Peruvian Children: A Multicenter Study"],"prefix":"10.1177","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7787-3745","authenticated-orcid":false,"given":"Nicole M.","family":"Castillo-Huerta","sequence":"first","affiliation":[{"name":"Universidad Peruana Cayetano Heredia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9708-3644","authenticated-orcid":false,"given":"M. Gabriel","family":"Delgado-Mosqueira","sequence":"additional","affiliation":[{"name":"Universidad Peruana Cayetano Heredia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-9278-1542","authenticated-orcid":false,"given":"Alicia","family":"Diaz-Kuan","sequence":"additional","affiliation":[{"name":"Universidad Peruana Cayetano Heredia"},{"name":"Medical Department, Gen\u00e9tica Molecular, Lima, Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2435-2911","authenticated-orcid":false,"given":"Carol","family":"Munayco Cortez","sequence":"additional","affiliation":[{"name":"Instituto Nacional de Salud del Ni\u00f1o San Borja"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2683-6319","authenticated-orcid":false,"given":"Jos\u00e9","family":"Camones Huerta","sequence":"additional","affiliation":[{"name":"Universidad Peruana Cayetano Heredia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0412-3350","authenticated-orcid":false,"given":"Daniel","family":"Guill\u00e9n-Pinto","sequence":"additional","affiliation":[{"name":"Universidad Peruana Cayetano Heredia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,12,8]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17239"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2016.11.021"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0952-x"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.61651\/rped.2012v65n2p81-88"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12951"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.774828"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-020-04600-5"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.15330"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.3978\/j.issn.2224-4336.2015.09.01"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes15030266"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(15)00250-1"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.lansea.2023.100170"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1055\/a-1909-2977"},{"key":"e_1_3_3_15_2","unstructured":"Ministerio de Salud. Especificaciones t\u00e9cnicas para la compra del producto farmac\u00e9utico vigabatrina 500mg tableta. Published online. Accessed February 9 2025. https:\/\/cdn.www.gob.pe\/uploads\/document\/file\/vigabatrina.pdf"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2013.05.003"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12703"},{"key":"e_1_3_3_18_2","unstructured":"Mu\u00f1oz Cisneros H. Etiolog\u00eda gen\u00e9tica de la epilepsia en ni\u00f1os y adolescentes: estudio observacional. 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