Pattern-sensitive patients with epilepsy use uncomfortable visual stimuli to self-induce seizures.

Sensory stimuli can induce seizures in patients with epilepsy and predisposed subjects. Visual stimuli are the most common triggers, provoking seizures through an abnormal response to light or pattern. Sensitive patients may intentionally provoke their seizures through visual stimuli.

Characteristics of visual evoked potentials related to the electro-clinical expression of reflex seizures in photosensitive patients with idiopathic occipital lobe epilepsy.

Seizures provoked by visual stimuli may be induced by abnormal responses to light (photosensitivity) and structured patterns (patternsensitivity). In this study, we analysed visual evoked potentials (VEPs) in three different samples: i) 38 photosensitive patients (21 males, 17 females; mean age 10.0 ± 2.

Epilepsy phenotype in patients with Xp22.31 microduplication.

The clinical significance of Xp22.31 microduplication is still unclear. We describe a family in which a mother and two children have Xp22.

Paroxysmal eyelid movements in patients with visual-sensitive reflex seizures.

Aim: Paroxysmal eyelid movements (PEM) are non-epileptic episodes characterized by eyelid closure, upturning of the eyes, and rapid eyelid flutter. The aim of this study was to report clinical and EEG data of patients with PEM and its relationship with visual sensitivity.

Methods: We studied 26 patients with epilepsy (12 males and 14 females; mean age: 14.

Cortical evoked potentials in children of diabetic mothers.

Type 1 diabetic mothers' infants show a delay of visual evoked potential (VEP) significantly related to some parameters of poor metabolic control during pregnancy. In the present paper we analyzed the characteristics of VEPs and somatosensory evoked potentials (SEPs) recorded in 16 three-year-old type 1 diabetic mothers' children (DMC). Compared with controls (23 nondiabetic mothers' healthy matched children), DMC showed significantly delayed mean latency of VEP (P2) and SEP (P22).

Long-term outcome of pattern-sensitive epilepsy.

Purpose: To evaluate the long-term outcome of patients with pattern-sensitive epilepsy.

Methods: We prospectively studied 35 patients (21 females and 14 males) with pattern-sensitive epilepsy (follow up > or = 5 years; mean 13.9; range 6.

A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.

A new patient affected by Guanidinoacetate methyltransferase (GAMT) deficiency was reported. This 13-year-old girl presented with mental retardation, as main symptom, associated with a typical pattern of biochemical and neurochemical (brain magnetic resonance spectroscopy) alterations. Molecular study detected a L197P transition on exon 6 of the GAMT gene.