Matias Juanes

B, Argentina

Last Updated: 09/26/2026

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Found 18 publications

Expanding the genotypic landscape of the neuronal ceroid lipofuscinoses: clinical and molecular findings from a tertiary-care center in Argentina.

Expanding the genotypic landscape of the neuronal ceroid lipofuscinoses: clinical and molecular findings from a tertiary-care center in Argentina.

Journal: Seizure

Published: March 20, 2026

Monozygotic twins with ZMYND11-related developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

Monozygotic twins with ZMYND11-related developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: November 17, 2025

GRIN2D-Related Developmental and Epileptic Encephalopathy Associated With Polymorphic Seizures Including Epileptic Spasms.

GRIN2D-Related Developmental and Epileptic Encephalopathy Associated With Polymorphic Seizures Including Epileptic Spasms.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: November 10, 2025

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Journal: Epilepsia

Published: October 31, 2025

KCNJ11-associated infantile epileptic spasms syndrome and neonatal diabetes.

KCNJ11-associated infantile epileptic spasms syndrome and neonatal diabetes.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: September 18, 2025

Lafora disease (NHLRC1) associated with multiple malformations of cortical development: A clinical vignette.

Lafora disease (NHLRC1) associated with multiple malformations of cortical development: A clinical vignette.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: June 23, 2025

Rapid Electroclinical Evolution in HECW2-Related Developmental and Epileptic Encephalopathy: Report of a Likely Splicing Variant With Familial Transmission.

Rapid Electroclinical Evolution in HECW2-Related Developmental and Epileptic Encephalopathy: Report of a Likely Splicing Variant With Familial Transmission.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: January 17, 2025

Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.

Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.

Journal: Seizure

Published: November 05, 2024

Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency.

Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: August 06, 2024

Non-epileptic stimulus-sensitive myoclonus in a newborn with developmental and epileptic encephalopathy associated with the SCN8A gene.

Non-epileptic stimulus-sensitive myoclonus in a newborn with developmental and epileptic encephalopathy associated with the SCN8A gene.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: June 09, 2024

De novo absence status epilepticus associated with the SLC6A1 gene in a pediatric patient.

De novo absence status epilepticus associated with the SLC6A1 gene in a pediatric patient.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: September 30, 2023

Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.

Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.

Journal: Medicina

Published: December 26, 2022

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Last Updated: 09/26/2026