Anna Rita Ferrari

TL;DR: Ten neurologically normal patients aged 8–30 years who had recurrent episodes of visually induced occipital seizures with age‐related onset and specific mode of precipitation are studied, finding that these patients have an idiopathic localization‐related epilepsy with age-related onset, and underrecognized type of epilepsy.

TL;DR: SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+).

TL;DR: Seven Italian families with generalized epilepsy with febrile seizures plus (GEFS+), in which mutations of SCN1A,SCN1B, and GABRG2 genes were excluded, are described and their clinical spectrum is compared with that of previously reported GEFS+ with known mutations.

TL;DR: This work investigated the role of CDKL5 deletions/duplications in causing early onset intractable epilepsy of unknown etiology in girls and found a Rett syndrome-like phenotype.

TL;DR: Video‐electroencephalography monitoring early in the course of CDKL5‐related epileptic encephalopathy is performed in order to examine the early electroclinical characteristics of the condition.