KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetes

Autores
Gonzalez, Bárbara Juliana; Juanes, Matías Hernan; Touzon, María Sol; Alonso, Cristina; Obregon Gomez, Leidy Rossana; Moreno, Natalia; Prieto, Mariana; Persico, Ana Laura; Reyes Valenzuela, Gabriela; Caraballo, Roberto Horacio
Año de publicación
2026
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Objective: To report the case of an infant with infantile epileptic spasms syndrome (IESS) and neonatal diabetes associated with a pathogenic variant in the KCNJ11 gene. Methods: We evaluated the electroclinical and ketoacidosis findings, molecular features, and response to treatment. Genetic testing was performed using next-generation sequencing panels targeting epilepsy and neonatal diabetes-related genes.Results: The patient was a 2-month-old girl who presented with epileptic spasms, hypsarrhythmia on EEG, delayed developmental milestones, and poorly controlled diabetes despite insulin therapy. A heterozygous pathogenic variant in the KCNJ11 gene was identified. This variant has been previously associated with DEND syndrome (developmental delay, epilepsy, and neonatal diabetes) and is known to respond to oral sulfonylureas. Following initiation of glibenclamide, there was significant improvement in glycemic control and a marked reduction in seizure frequency, allowing for a decrease in anti-seizure medications.Significance: This case underscores the importance of considering early clinical diagnosis and genetic testing in patients with IESS and diabetes. Identification of a KCNJ11 variant allowed for targeted treatment with sulfonylureas, which improved both metabolic and neurological outcomes.
Fil: Gonzalez, Bárbara Juliana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
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
Fil: Touzon, María Sol. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Alonso, Cristina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Obregon Gomez, Leidy Rossana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Moreno, Natalia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Prieto, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Persico, Ana Laura. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Reyes Valenzuela, Gabriela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
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
Materia
Diabetes
Infantile Epileptic Spasms Syndrome
KCNJ11
Neonatal
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/289901
Acceder
id CONICETDig_99e191668a2084bda2eeee7159884813
oai_identifier_str oai:ri.conicet.gov.ar:11336/289901
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetesGonzalez, Bárbara JulianaJuanes, Matías HernanTouzon, María SolAlonso, CristinaObregon Gomez, Leidy RossanaMoreno, NataliaPrieto, MarianaPersico, Ana LauraReyes Valenzuela, GabrielaCaraballo, Roberto HoracioDiabetesInfantile Epileptic Spasms SyndromeKCNJ11Neonatalhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Objective: To report the case of an infant with infantile epileptic spasms syndrome (IESS) and neonatal diabetes associated with a pathogenic variant in the KCNJ11 gene. Methods: We evaluated the electroclinical and ketoacidosis findings, molecular features, and response to treatment. Genetic testing was performed using next-generation sequencing panels targeting epilepsy and neonatal diabetes-related genes.Results: The patient was a 2-month-old girl who presented with epileptic spasms, hypsarrhythmia on EEG, delayed developmental milestones, and poorly controlled diabetes despite insulin therapy. A heterozygous pathogenic variant in the KCNJ11 gene was identified. This variant has been previously associated with DEND syndrome (developmental delay, epilepsy, and neonatal diabetes) and is known to respond to oral sulfonylureas. Following initiation of glibenclamide, there was significant improvement in glycemic control and a marked reduction in seizure frequency, allowing for a decrease in anti-seizure medications.Significance: This case underscores the importance of considering early clinical diagnosis and genetic testing in patients with IESS and diabetes. Identification of a KCNJ11 variant allowed for targeted treatment with sulfonylureas, which improved both metabolic and neurological outcomes.Fil: Gonzalez, Bárbara Juliana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Juanes, Matías Hernan. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Touzon, María Sol. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Alonso, Cristina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Obregon Gomez, Leidy Rossana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Moreno, Natalia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Prieto, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Persico, Ana Laura. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Reyes Valenzuela, Gabriela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Caraballo, Roberto Horacio. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaJohn Libbey Eurotext Ltd2026-03info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/vnd.openxmlformats-officedocument.wordprocessingml.documentapplication/pdfhttp://hdl.handle.net/11336/289901Gonzalez, Bárbara Juliana; Juanes, Matías Hernan; Touzon, María Sol; Alonso, Cristina; Obregon Gomez, Leidy Rossana; et al.; KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetes; John Libbey Eurotext Ltd; Epileptic Disorders; 3-2026; 1-41294-9361CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/epd2.70228info:eu-repo/semantics/altIdentifier/doi/10.1002/epd2.70228info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2026-08-25T15:02:02Zoai:ri.conicet.gov.ar:11336/289901instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982026-08-25 15:02:03.277CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetes
title KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetes
spellingShingle KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetes
Gonzalez, Bárbara Juliana
Diabetes
Infantile Epileptic Spasms Syndrome
KCNJ11
Neonatal
title_short KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetes
title_full KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetes
title_fullStr KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetes
title_full_unstemmed KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetes
title_sort KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetes
dc.creator.none.fl_str_mv Gonzalez, Bárbara Juliana
Juanes, Matías Hernan
Touzon, María Sol
Alonso, Cristina
Obregon Gomez, Leidy Rossana
Moreno, Natalia
Prieto, Mariana
Persico, Ana Laura
Reyes Valenzuela, Gabriela
Caraballo, Roberto Horacio
author Gonzalez, Bárbara Juliana
author_facet Gonzalez, Bárbara Juliana
Juanes, Matías Hernan
Touzon, María Sol
Alonso, Cristina
Obregon Gomez, Leidy Rossana
Moreno, Natalia
Prieto, Mariana
Persico, Ana Laura
Reyes Valenzuela, Gabriela
Caraballo, Roberto Horacio
author_role author
author2 Juanes, Matías Hernan
Touzon, María Sol
Alonso, Cristina
Obregon Gomez, Leidy Rossana
Moreno, Natalia
Prieto, Mariana
Persico, Ana Laura
Reyes Valenzuela, Gabriela
Caraballo, Roberto Horacio
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Diabetes
Infantile Epileptic Spasms Syndrome
KCNJ11
Neonatal
topic Diabetes
Infantile Epileptic Spasms Syndrome
KCNJ11
Neonatal
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Objective: To report the case of an infant with infantile epileptic spasms syndrome (IESS) and neonatal diabetes associated with a pathogenic variant in the KCNJ11 gene. Methods: We evaluated the electroclinical and ketoacidosis findings, molecular features, and response to treatment. Genetic testing was performed using next-generation sequencing panels targeting epilepsy and neonatal diabetes-related genes.Results: The patient was a 2-month-old girl who presented with epileptic spasms, hypsarrhythmia on EEG, delayed developmental milestones, and poorly controlled diabetes despite insulin therapy. A heterozygous pathogenic variant in the KCNJ11 gene was identified. This variant has been previously associated with DEND syndrome (developmental delay, epilepsy, and neonatal diabetes) and is known to respond to oral sulfonylureas. Following initiation of glibenclamide, there was significant improvement in glycemic control and a marked reduction in seizure frequency, allowing for a decrease in anti-seizure medications.Significance: This case underscores the importance of considering early clinical diagnosis and genetic testing in patients with IESS and diabetes. Identification of a KCNJ11 variant allowed for targeted treatment with sulfonylureas, which improved both metabolic and neurological outcomes.
Fil: Gonzalez, Bárbara Juliana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
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
Fil: Touzon, María Sol. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Alonso, Cristina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Obregon Gomez, Leidy Rossana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Moreno, Natalia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Prieto, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Persico, Ana Laura. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Reyes Valenzuela, Gabriela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
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
description Objective: To report the case of an infant with infantile epileptic spasms syndrome (IESS) and neonatal diabetes associated with a pathogenic variant in the KCNJ11 gene. Methods: We evaluated the electroclinical and ketoacidosis findings, molecular features, and response to treatment. Genetic testing was performed using next-generation sequencing panels targeting epilepsy and neonatal diabetes-related genes.Results: The patient was a 2-month-old girl who presented with epileptic spasms, hypsarrhythmia on EEG, delayed developmental milestones, and poorly controlled diabetes despite insulin therapy. A heterozygous pathogenic variant in the KCNJ11 gene was identified. This variant has been previously associated with DEND syndrome (developmental delay, epilepsy, and neonatal diabetes) and is known to respond to oral sulfonylureas. Following initiation of glibenclamide, there was significant improvement in glycemic control and a marked reduction in seizure frequency, allowing for a decrease in anti-seizure medications.Significance: This case underscores the importance of considering early clinical diagnosis and genetic testing in patients with IESS and diabetes. Identification of a KCNJ11 variant allowed for targeted treatment with sulfonylureas, which improved both metabolic and neurological outcomes.
publishDate 2026
dc.date.none.fl_str_mv 2026-03
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/289901
Gonzalez, Bárbara Juliana; Juanes, Matías Hernan; Touzon, María Sol; Alonso, Cristina; Obregon Gomez, Leidy Rossana; et al.; KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetes; John Libbey Eurotext Ltd; Epileptic Disorders; 3-2026; 1-4
1294-9361
CONICET Digital
CONICET
url http://hdl.handle.net/11336/289901
identifier_str_mv Gonzalez, Bárbara Juliana; Juanes, Matías Hernan; Touzon, María Sol; Alonso, Cristina; Obregon Gomez, Leidy Rossana; et al.; KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetes; John Libbey Eurotext Ltd; Epileptic Disorders; 3-2026; 1-4
1294-9361
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/epd2.70228
info:eu-repo/semantics/altIdentifier/doi/10.1002/epd2.70228
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/vnd.openxmlformats-officedocument.wordprocessingml.document
application/pdf
dc.publisher.none.fl_str_mv John Libbey Eurotext Ltd
publisher.none.fl_str_mv John Libbey Eurotext Ltd
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.265058

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