About
Contact & Profiles
Research Areas
- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
- Neuroscience and Neuropharmacology Research
- Neonatal and fetal brain pathology
- Cannabis and Cannabinoid Research
- Gastroesophageal reflux and treatments
- Biotin and Related Studies
- Fetal and Pediatric Neurological Disorders
- Gestational Diabetes Research and Management
- Genomic variations and chromosomal abnormalities
- Neonatal Health and Biochemistry
- Dermatological and Skeletal Disorders
- Connective tissue disorders research
- Neurological diseases and metabolism
- Diabetes Management and Education
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Ubiquitin and proteasome pathways
- Diabetes Management and Research
- Bone and Dental Protein Studies
- Ion channel regulation and function
- EEG and Brain-Computer Interfaces
- Facial Trauma and Fracture Management
- Ion Transport and Channel Regulation
Garrahan Hospital
2019-2024
Hospital Provincial de Rosario
2023
10.1016/j.eplepsyres.2023.107098
article
EN
Epilepsy Research
2023-01-25
10.1016/j.yebeh.2023.109245
article
EN
Epilepsy & Behavior
2023-05-12
10.1016/j.yebeh.2022.108606
article
EN
Epilepsy & Behavior
2022-02-15
10.1016/j.seizure.2024.01.010
article
EN
publisher-specific-oa
Seizure
2024-01-18
10.1016/j.eplepsyres.2020.106446
article
EN
Epilepsy Research
2020-08-19
10.1016/j.yebeh.2023.109220
article
EN
Epilepsy & Behavior
2023-04-27
10.1016/j.yebeh.2022.108702
article
EN
Epilepsy & Behavior
2022-05-05
10.1016/j.eplepsyres.2021.106768
article
EN
Epilepsy Research
2021-09-17
10.1016/j.eplepsyres.2024.107354
article
EN
Epilepsy Research
2024-03-20
Abstract Introduction GRIN1 encephalopathy is an emerging genetic entity due to de novo monoallelic or biallelic pathogenic variants in the gene that impair function of GluN1 subunit N-methyl-D-aspartate (NMDA) receptor. Here, we describe two patients with uncommon neuroradiological pattern. Cases Presentation Two boys presented a neurodevelopmental disorder characterized by severe cognitive impairment, autistic features, hand stereotyped movements, self-injurious behavior, and hyperkinetic...
10.1055/s-0044-1787753
article
EN
Journal of Pediatric Epilepsy
2024-06-13
10.1016/j.yebeh.2021.108451
article
EN
Epilepsy & Behavior
2021-12-01
10.1016/j.yebeh.2022.108552
article
EN
Epilepsy & Behavior
2022-01-18
10.1016/j.nmd.2019.06.469
article
EN
Neuromuscular Disorders
2019-09-29
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