Publications by authors named "Itziar Alonso-Colmenero"
haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals.
View Article and Find Full Text PDFArticle Synopsis
- GRIN-related disorders are rare developmental conditions in children caused by genetic variants, which often lead to various cognitive and behavioral challenges with few treatment options available.
- A non-randomized phase 2A trial tested L-serine as a potential treatment for these disorders in children aged 2-18, measuring its safety and efficacy over a 52-week period using several behavioral and cognitive assessment tools.
- Twenty-four participants were included in the study, showing improvements in specific skill areas, particularly in children with milder impairments, demonstrating promise for L-serine as a therapeutic option for those with GRIN genetic variants.
Article Synopsis
- Phenylketonuria (PKU) is a rare metabolic disease that leads to neurological symptoms and slow performance in tasks requiring motor coordination, which is linked to phenylalanine (Phe) levels.
- A study compared the visuomotor task performance of early-treated PKU patients aged 11 to 25 with healthy controls, measuring response speed and practice effects related to movement.
- Results showed PKU patients had slower responses and did not benefit from practice, with correlations indicating that higher Phe levels and performance on executive function tasks may contribute to diminished motor control and learning capabilities.
INTRODUCTION. Phenylketonuria (PKU) is an autosomal recessive metabolic disease caused by a deficiency of phenylalanine hydroxylase. The dietary therapy for the effective management of PKU, in particular the restriction of high-protein foods of animal-origin, compromises patients' intake of fat and distorts the n-3:n-6 ratio of essential fatty acids in the diet.
View Article and Find Full Text PDFReflex seizures are a rare phenomenon among epileptic patients, in which an epileptic discharge is triggered by various kinds of stimuli (visual, auditory, tactile or gustatory). Epilepsy is common in Rett syndrome patients (up to 70%), but to the authors' knowledge, no pressure or eating-triggered seizures have yet been reported in Rett children. We describe three epileptic Rett patients with reflex seizures, triggered by food intake or proprioception.
View Article and Find Full Text PDFBackground: Adenylosuccinate lyase (ADSL) deficiency is an autosomal recessive disorder of the purine synthesis which results in accumulation of succinylpurines (succinyladenosine (S-Ado) and succinylamino-imidazole carboxamide riboside (SAICAr)) in body fluids. Patients present developmental delay, often accompanied by epilepsy and autistic spectrum disorders.
Objectives: To describe atypical neurological features in the evolution of three novel unrelated cases of ADSL deficiency.