Phenotypic variability of GLUT1 deficiency: When is necessary to suspect?

Introduction: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is caused by the SLC2A1 gene muta tion, which encodes the glucose transporter proteins to the brain Neurological manifestations occur in three main domains: seizures, abnormal movements, and cognitive disorders. The diagnosis is presumed upon the finding of low CSF glucose and confirmed by the gene molecular analysis. Ac curate diagnosis is important because it has a specific treatment, which is ketogenic diet.

Lateral Prefrontal Theta Oscillations Reflect Proactive Cognitive Control Impairment in Males With Attention Deficit Hyperactivity Disorder.

Attention Deficit Hyperactivity Disorder (ADHD) is a common neuropsychiatric disorder in which children present prefrontal cortex (PFC) related functions deficit. Proactive cognitive control is a process that anticipates the requirement of cognitive control and crucially depends on the maturity of the PFC. Since this process is important to ADHD symptomatology, we here test the hypothesis that children with ADHD have proactive cognitive control impairments and that these impairments are reflected in the PFC oscillatory activity.

Neurocognitive mechanisms underlying working memory encoding and retrieval in Attention-Deficit/Hyperactivity Disorder.

Working memory (WM) impairments in ADHD have been consistently reported along with deficits in attentional control. Yet, it is not clear which specific WM processes are affected in this condition. A deficient coupling between attention and WM has been reported.

A pupil size, eye-tracking and neuropsychological dataset from ADHD children during a cognitive task.

Attention Deficit/Hyperactive Disorder (ADHD) is diagnosed based on observed behavioral outcomes alone. Given that some brain attentional networks involve circuits that control the eye pupil, we monitored pupil size in ADHD- diagnosed children and also in control children during a visuospatial working memory task. We present here the full dataset, consisting of pupil size time series for each trial and subject.

Theta and Alpha Oscillation Impairments in Autistic Spectrum Disorder Reflect Working Memory Deficit.

A dysfunction in the excitatory-inhibitory (E/I) coordination in neuronal assembly has been proposed as a possible neurobiological mechanism of Autistic Spectrum Disorder (ASD). However, the potential impact of this mechanism in cognitive performance is not fully explored. Since the main consequence of E/I dysfunction is an impairment in oscillatory activity and its underlying cognitive computations, we assessed the electroencephalographic activity of ASD and typically developing (TD) subjects during a working-memory task.