The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.

Objective: To describe the clinical phenotype of 7 families with Autosomal Dominant Lateral Temporal Lobe Epilepsy (ADLTE) related to Reelin (RELN) mutations comparing the data with those observed in 12 LGI1-mutated pedigrees belonging to our series.

Methods: Out of 40 Italian families with ADLTE, collected by epileptologists participating in a collaborative study of the Commission for Genetics of the Italian League against Epilepsy encompassing a 14-year period (2000-2014), 7 (17.5%) were found to harbor heterozygous RELN mutations.

Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age: Diagnostic Implications and Peculiarities.

Electroencephalographic (EEG) photoparoxysmal response has been little investigated in very young patients. We studied 5055 patients aged less than 5 years with no acquired brain damage, who underwent EEG recording. We determined the prevalence and significance of photoparoxysmal response induced by 1 to 20 Hz photic stimulation.

Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum.

Mutations of the voltage gated Na(+) channel Na(V)1.1 (SCN1A) are important causes of different genetic epilepsies and can also cause familial hemiplegic migraine (FHM-III). In previous studies, some rescuable epileptogenic folding defective mutants located in domain IV of Na(V)1.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent de novo mutation, c.

Significance of multiple neurophysiological measures in patients with chronic disorders of consciousness.

Objective: The aim of this study was to verify the value of multiple neurophysiological tests in classifying disorders of consciousness (DOCs) in patients in a chronic vegetative or minimal consciousness state categorised on the basis of the Coma Recovery Scale (CRS).

Methods: The study included 142 patients, all of whom underwent long (18h) EEG-polygraphic recordings including one night. The EEG was scored using the Synek scale and sleep patterns using an arbitrary scale.

Focal epilepsies in adult patients attending two epilepsy centers: classification of drug-resistance, assessment of risk factors, and usefulness of "new" antiepileptic drugs.

Purpose: To classify the grade of antiepileptic drug (AED) resistance in a cohort of patients with focal epilepsies, to recognize the risk factors for AED resistance, and to estimate the helpfulness of "new-generation" AEDs.

Methods: We included 1,155 adults with focal epilepsies who were observed consecutively after 1990 and followed regularly at two epilepsy centers. We systematically collected the clinical, diagnostic, and therapeutic data using a custom-written database.

Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes.

Dravet syndrome, often caused by mutations of SCN1A-gene, presents with prolonged clonic, generalized or unilateral seizures often occurring with fever during the first year of life, followed by usually severe epilepsy. The EEG, normal at the outset, later shows generalized and focal epileptic activities. The psychomotor development deteriorates, but little is known about the time course of the cognitive impairment and its relationship with seizures severity.

ICTAL EEG fast activity in West syndrome: from onset to outcome.

Purpose: To characterize the fast EEG activities associated with infantile spasms in West syndrome, and their value in predicting the recurrence and localization of late seizures.

Methods: We selected 23 infants who were followed for at least 2 years. Selected EEG recordings underwent autospectra, coherence, and phase analyses in order to assess the changes during follow-up.