The application of artificial intelligence to understand the pathophysiological basis of psychogenic nonepileptic seizures.

Psychogenic nonepileptic seizures (PNES) are episodes of paroxysmal impairment associated with a range of motor, sensory, and mental manifestations, which perfectly mimic epileptic seizures. Several patterns of neural abnormalities have been described without identifying a definite neurobiological substrate. In this multicenter cross-sectional study, we applied a multivariate classification algorithm on morphological brain imaging metrics to extract reliable biomarkers useful to distinguish patients from controls at an individual level.

Clinical features and outcome of 6 new patients carrying de novo gene mutations.

Objective: To describe electroclinical features and outcome of 6 patients harboring mutations.

Methods: Clinical, EEG, neuropsychological, and brain MRI data analysis. Targeted next-generation sequencing of a 95 epilepsy gene panel.

Cognitive outcome after epilepsy surgery in children: A controlled longitudinal study.

Objective: To analyze the determinants of cognitive outcome two years after surgery for drug-resistant epilepsy in a cohort of 31 children when compared to a control group of 14 surgical candidates who had yet to undergo surgery two years after the first neuropsychological assessment.

Methods: Controlled longitudinal study including three evaluations of IQ (Intelligence Quotient) scores or GDQ (General Developmental Quotient) for each group depending on the patient's age: prior to surgery (T0), one year (T1) and two years (T2) after surgery for the surgical group; baseline (T0) and one year (T1) and 2years (T2) after the first evaluation for the control-group. At follow-up, 25 children (80%) of the surgical group were seizure free, while seizure outcome was unsatisfactory in the remaining six (20%).

Age-related differences in audiovisual interactions of semantically different stimuli.

Converging results have shown that adults benefit from congruent multisensory stimulation in the identification of complex stimuli, whereas the developmental trajectory of the ability to integrate multisensory inputs in children is less well understood. In this study we explored the effects of audiovisual semantic congruency on identification of visually presented stimuli belonging to different categories, using a cross-modal approach. Four groups of children ranging in age from 6 to 13 years and adults were administered an object identification task of visually presented pictures belonging to living and nonliving entities.

Making memories: the development of long-term visual knowledge in children with visual agnosia.

There are few reports about the effects of perinatal acquired brain lesions on the development of visual perception. These studies demonstrate nonseverely impaired visual-spatial abilities and preserved visual memory. Longitudinal data analyzing the effects of compromised perceptions on long-term visual knowledge in agnosics are limited to lesions having occurred in adulthood.

Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication.

Interstitial chromosome 15q11-q13 duplications are associated with developmental delay, behavioral problems and additional manifestations, including epilepsy. In most affected individuals the duplicated chromosome is maternally derived, whereas paternal inheritance is more often associated with a normal phenotype. Seizures have not been described in patients with paternal dup 15q11-q13.

Impaired object identification in idiopathic childhood occipital epilepsy.

Purpose: To investigate whether children with epilepsy primarily affecting the occipital cortex exhibit impairment of visual object identification and to what extent such a hypothesized dysfunction is related to an interfering functional, rather than structural, process.

Method: We studied nine children with idiopathic childhood occipital epilepsy (ICOE) and compared them to eight children with lesional posterior cortex epilepsy (PCEs) and to 60 age-matched controls. We applied an "ascendent" paradigm of object identification, using a coarse-to-fine order procedure, which gradually integrated spatial frequency information from the most blurred image to the complete figure.

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.

Deletions and duplications/amplifications of the α1-sodium channel subunit (SCN1A) gene occur in about 12% of patients with Dravet syndrome (DS) who are otherwise mutation-negative. Such genomic abnormalities cause loss of function, with severe phenotypes, reproductive disadvantage and, therefore, sporadic occurrence. Inherited mutations, occurring in ∼5% of patients with DS, are usually missense; transmission occurs from a mildly affected parent exhibiting febrile seizures (FS) or the generalized epilepsy with febrile seizures plus (GEFS+) spectrum.