Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants in 48 different genes, which were implicated in neuronal excitability, neurodevelopment, synaptic transmission, and metabolic pathways. In 104 cases (42%) we detected variant(s) that we classified as pathogenic or likely pathogenic.

[Characteristics and evolution of patients with Alice in Wonderland syndrome].

Introduction: Alice in Wonderland syndrome is a process characterized for complex disorders of the visual perception with multiple etiologies.

Aim: To evaluate the clinical, electrophysiological, etiological characteristics and natural evolution in children with Alice in Wonderland syndrome.

Patients And Methods: We have realized a retrospective study by what means of a review of 20 clinical histories of 18 year old minor patients diagnosed of Alice in Wonderland syndrome from January 1995 until February 2010.

[Panayiotopoulos syndrome: academic difficulties and behavioural disorders].

Introduction: Panayiotopoulos syndrome (PS) is one of the benign epilepsies found in childhood. Some papers have shown that patients can present behavioural disorders and learning difficulties.

Aims: To review patients diagnosed with PS in our hospital and to check whether they display evidence of such disorders and if there is any specific feature that allows high-risk patients to be identified.

[Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus].

Introduction: The most frequent mutations in the spectrum of epilepsy with febrile seizures plus are those in the voltage-dependent sodium channels or in the gamma-aminobutyric acid receptors.

Aim: To describe the clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus and compare them with those found in the literature.

Patients And Methods: We analysed 26 patients who had been diagnosed with this condition and had had a targeted genetic study with the aim of collecting variables related to epidemiological data, characteristics of the epilepsy, development, complementary tests, antiepileptic treatments and genetic study.

Clinical, polysomnographic and laboratory characteristics of narcolepsy-cataplexy in a sample of children and adolescents.

Objective: To report our findings from a sample of narcoleptic children and adolescents evaluated in our unit from 1988 to 2005.

Patients And Methods: The sample was composed of nine children (5 boys) with a mean age of 14.5 years at diagnosis.