Evaluating the efficacy of a ketogenic diet in managing drug resistant paediatric DEDPC5-related epilepsy.

Aim: To evaluate the effectiveness of the ketogenic diet treatment in a cohort of patients with drug-resistant epilepsy with a mutation in the DEPDC5 gene.

Materials And Methods: We followed four paediatric patients with drug resistant DEPDC5-related epilepsy through a ketogenic diet (KD) treatment course. We analyzed the following parameters of their clinical profiles: past medical history, clinical characteristics of seizure morphology, EEG records pre- and post-KD treatment, the results of MRI head and neurological and psychological examinations (pre-treatment and throughout treatment course).

A suggestive seizure induction technique protocol in a short EEG in children and adolescents.

The use of a suggestive seizure induction procedure (SSI) in medicine, particularly in the differential diagnosis of psychogenic nonepileptic epileptic seizures (PNES), is well documented. However, there is no description of standardized suggestion procedures used in children and adolescents. The research presents a standardized method of SSI with a cotton swab soaked in water.

Sensitivity and specificity of induction of psychogenic non-epileptic seizures in children and adolescents.

Purpose: The purpose of this study was to investigate the sensitivity and specificity of a standardized placebo protocol using a moist swab pad application in children and adolescents with psychogenic seizures vs epileptic seizures.

Methods: We retrospectively reviewed clinical data and video-EEG monitoring records with the standardized placebo protocol of 408 patients. Video -EEG diagnosis with PNES-consistent semiology was made in the context of clinical data by a two-certified epileptologist.

Variety of symptoms of GLUT1 deficiency syndrome in three-generation family.

Objective: Glucose transporter type 1 deficiency (G1D) syndrome is generally a genetic disorder because of a mutation of the SLC2A1 gene. The clinical picture of G1D is heterogeneous. The aim of this paper was to present the case of G1D, recognized in a three-generation family, caused by missense mutation p.

Correspondence and cluster analysis of free-drawn clocks in a group of children and adolescents with neurological and psychiatric diseases.

The present work addresses the identification and qualitative assessment of errors that appear in a free-drawn clock-drawing test representing the time 8:20 in a sample of 455 children and adolescents with neurological diseases and their controls. The authors sought to verify whether the occurrence of particular errors in the clock drawings significantly differentiates the clinical groups. For statistical evaluation of the results, we applied correspondence analysis and cluster analysis.

[Homocysteine and asymmetric dimethylarginine (ADMA) in epilepsy].

Homocysteine (Hcy) is a thyol amino acid resulting from demethylation of methionine. It is metabolized through two pathways: remethylation and trassulfuration, which use as cofactors folate, vitamin B6 and vitamin B12. Hyperhomocysteinemia (hHcy) is a risk factor for cerebrovascular disease, dementia, inborn defects, impaired cognitive function.

Neuropsychological disturbances in frontal lobe epilepsy due to mutated nicotinic receptors.

Mutations in nicotinic receptor subunits have been identified in some families with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Normal intelligence has currently been considered the rule, although anecdotal cases with intellectual disability have been reported. We aimed to evaluate the frequency and degree of neuropsychological disorders in ADNFLE associated with nicotinic receptor mutations by testing 11 subjects from four families with a comprehensive neuropsychological assessment.