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PURPOSE To report on the association of childhood absence epilepsy and paroxysmal dyskinesia (PD). METHODS We describe six patients aged 6 to 27 years (mean, 14 years) who were identified in five centers participating in a European study group. Patients had been followed up clinically from the first symptoms and had been studied with video-EEG recordings(More)
Gillespie syndrome (GS) is characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cerebellar atrophy. Trio-based exome sequencing identified de novo mutations in ITPR1 in three unrelated individuals with GS recruited to the Deciphering Developmental Disorders study. Whole-exome or targeted sequence analysis(More)
Attention deficit/hyperactivity disorder (ADHD) is often present in patients with post-streptococcal neuropsychiatric disorders such as Sydenham’s chorea and PANDAS, in which anti-basal ganglia antibodies (ABGA) have been frequently found. Our study investigates the hypothesis that pharyngeal group A β-hemolytic streptococcus (GABHS) infections and serum(More)
The majority of neuropsychological tests used to evaluate attention processes in children lack ecological validity. The AULA Nesplora (AULA) is a continuous performance test, developed in a virtual setting, very similar to a school classroom. The aim of the present study is to analyze the convergent validity between the AULA and the Continuous Performance(More)
Reflex epilepsy includes a group of epileptic syndromes in which seizures are induced by a stimulus, either simple (visual, somatosensory, olfactory, auditory) or more complex (e.g., eating, thinking, reading). We document a case of reflex epilepsy in which focal seizures are triggered exclusively by gait. The patient is a young boy whose walking was(More)
The cases of three children, 16, 12, and 12 years of age, who suffered sudden confusional state and cortical blindness lasting 12 to 30 minutes while under treatment with high-dose methotrexate, cyclophosphamide, and dactinomycin for a lower limb osteosarcoma are reported. Transient neuropsychologic deficits arose after the acute phase of treatment: left(More)
Attention problems are frequently seen in children with epilepsy. This review gives an overview of the most used constructs of attention and analyzes the available evidence for attention deficits in children with epilepsy, the effects of epilepsy variables on attention, and the possible pathophysiological mechanisms involved. Children with benign childhood(More)
OBJECTIVES To review the different concepts and definitions of the executive system (ES) and its relationship with attention and working memory. To apply these concepts to the theories about executive dysfunction in children with attention deficit hyperactivity disorder (ADHD). DEVELOPMENT A functional and terminological definition about ES is made(More)
INTRODUCTION Cognitive disorders are common in patients with epilepsy. Their aetiology is multifactorial, being affected by the type and location of the epileptogenic lesion, epileptic syndrome, type of seizures, age of onset, frequency and severity. Timely diagnosis and treatment can help to reduce their impact on the patient's quality of life. RESULTS(More)