PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.

gene has been known to be the cause of "hyperphosphatasia, mental retardation syndrome-3" (HPMRS3). To date, 14 pathogenic variants in have been identified as the cause of this syndrome in 24 patients described in single-case reports or small clinical series with pan-ethnic distribution. We aim to present a pediatric -mutated case, intending to further expand the clinical phenotype of the syndrome and to report our experience on a therapeutic approach to drug-resistant epilepsy.

Sensitive period for the plasticity of alpha activity in humans.

Visual experience is crucial for the development of neural processing. For example, alpha activity development is a vision-dependent mechanism. Indeed, studies report no alpha activity is present in blind adults.

Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations.

Objectives: Autosomic recessive mutations in the PIGN gene have been described in less than 30 subjects to date, in whom multiple congenital anomalies combined with severe developmental delay, hypotonia, epileptic encephalopathy, and cerebellar atrophy have been described as crucial features. A clear-cut neuroradiological characterization of this entity, however, is still lacking. We aim to present three pediatric PIGN mutated cases with an in-depth evaluation of their brain abnormalities.

Epileptic Encephalopathies with Status Epilepticus during Sleep: New Techniques for Understanding Pathophysiology and Therapeutic Options.

Encephalopathy with status epilepticus during sleep (ESES) is an epileptic encephalopathy, as defined by the International League Against Epilepsy (ILAE) Task Force on Classification and Terminology, that is, a condition in which the epileptic processes themselves are believed to contribute to the disturbance in cerebral function. Clinical manifestations of ESES are heterogeneous: apart from different seizure types, they consist in combinations of cognitive, motor, and behavioural disturbances associated with a peculiar electroencephalographic pattern of paroxysmal activity significantly activated during slow sleep, which culminates in a picture of continuous spikes and waves during sleep (CSWS). The pathophysiological mechanisms underlying this condition are still incompletely understood.

Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma.

Hypothalamic hamartoma is a rare developmental non-neoplastic malformation, often characterised by early onset gelastic seizures and later progressive cognitive and behavioural deterioration. In this case study, we have examined a child who presented with an atypical onset of benign paroxysmal gaze deviation between two to three months of age. The patient subsequently developed gelastic seizures at age 13.

Long-term neuropsychological follow-up and nosological considerations in five patients with continuous spikes and waves during slow sleep.

Continuous spikes and waves during slow sleep (CSWSS) is a well-known EEG pattern that can be associated with cognitive and behavioural deterioration. We present the long-term neuropsychological follow-up and nosological considerations of five patients who developed CSWSS during childhood. All five of our patients presented CSWSS, although the duration and severity of this pattern varied.