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.

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Background: Mutations in the KCTD7 gene have been associated with progressive myoclonus epilepsy and, in a single patient, with the so-called "Neuronal Ceroid Lipofuscinosis 14" (characterised by myoclonic seizures, cognitive regression, optic atrophy leading to visual loss, and progressive cortical and cerebellar atrophy).

Clinical Reports: We describe two new patients carrying two novel pathogenic mutations in the KCTD7 gene. Patient 1 (NM_153033.

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.

Clinical and genetic analysis of a family with two rare reflex epilepsies.

Purpose: To determine clinical phenotypes, evolution and genetic background of a large family with a combination of two unusual forms of reflex epilepsies.

Method: Phenotyping was performed in eighteen family members (10 F, 8 M) including standardized EEG recordings with intermittent photic stimulation (IPS). Genetic analyses (linkage scans, Whole Exome Sequencing (WES) and Functional studies) were performed using photoparoxysmal EEG responses (PPRs) as affection status.

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).

A Multicentre Database for Normative Brainstem Auditory Evoked Potentials (BAEPs) in Children: Methodology for Data Collection and Evaluation.

Background: The influence of physiological and methodological factors on recordings of brainstem auditory evoked potentials (BAEPs) is greater in children than in adults.

Objective: To collect and evaluate BAEP data in normal children, and measure intra- and inter-laboratory variability.

Methods: Seven hundred and fifty unselected BAEP recordings were collected and evaluated from children ranging from neonates to 14-year-olds by eight laboratories in Italy.

Late-onset epileptic spasms in children with Pallister-Killian syndrome: a report of two new cases and review of the electroclinical aspects.

Pallister-Killian syndrome is a rare syndrome of multiple congenital anomalies attributable to the presence of a mosaic supernumerary isochromosome (12p). Although the clinical manifestations of Pallister-Killian syndrome are variable, the most common anomalies include craniofacial dysmorphisms, limb deformities, progressive psychomotor development delay, severe hypotonia, and epilepsy. Standard karyotype is nearly always normal, but the isochromosome (12p) is present in a high percentage of skin fibroblasts.

Visual evoked potentials in infants of diabetic mothers: relations to clinical and metabolic status during pregnancy and delivery.

Objective: To evaluate Visual Evoked Potentials (VEPs) and psychomotor development of infants of diabetic mothers (IDMs) in relation to clinical and metabolic data during pregnancy and delivery.

Methods: VEPs and psychomotor development (Brunet-Lézine) were analysed in 40 two-month-old IDMs (21 males, 19 females), 24 from mothers with type-1 diabetes, 13 gestational diabetes, and 3 type-2 diabetes. Normative VEP data were obtained from 63 age matched controls.

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.

Electroclinical features in children and adolescents with epilepsy and/or migraine, and occipital epileptiform EEG abnormalities.

This study attempted to better define clinical and EEG features for differential diagnosis between epilepsy and migraine in children with occipital epileptiform EEG abnormalities. We studied 126 children (57 males, 69 females; age 4-18 years) suffering from epilepsy (63), migraine (43) or both (20). Patients were selected because of the presence of epileptiform abnormalities in the occipital regions on their EEG at rest.

Pattern sensitivity and photosensitivity in epileptic children with visually induced seizures.

We evaluated photosensitivity and pattern sensitivity in 74 epileptic children (38 males, 36 females aged 4.4-19 years; mean age 11.9 years) with reflex seizures induced by environmental visual stimuli and analyzed clinical and EEG characteristics of patients according to type of sensitivity.

Effects of chronic high serum levels of phenobarbital on evoked potentials in epileptic children.

We studied VEP and BAEP in 8 epileptic children with chronic high serum levels of phenobarbital. Records were obtained when the drug serum level was more than 40 mg/l and repeated when serum concentration was within the normal range. During the periods of high levels, P2 latency of the VEP was abnormally increased in all cases but one.

Reflex seizures as initial manifestations of systemic lupus erythematosus in childhood.

We report a 10-year-old girl with reflex seizures characterized by visual and acoustic hallucinations, induced by visual and acoustic stimulations. The EEG showed atypical spike-wave discharges on the left temporo-occipital area, markedly activated by visual and acoustic stimuli (intermittent light, pattern-reversal stimulation and monoaural right pure tone). The patient was treated with carbamazepine and seizure stopped within 7 months.

[Continuous localized EEG discharge during sleep in children without neuropsychological problems].

After having reported continuous localized EEG discharge during slow sleep (CLEDS) in six children with congenital encephalopathy, we observed a similar EEG picture in six children free from both neuropsychological and neuroradiological defects. They suffered from partial idiopathic epilepsy; five presented a familial disposition towards febrile seizures. Continuous paroxysmal activity during sleep was observed from 4.

Pattern-sensitive epilepsy: genetic aspects in two families.

We report two families in which five members (three in one and two in the other) suffer from pattern-sensitive epilepsy. In all affected members seizures were induced by environmental visual patterned stimuli. Diagnosis was confirmed by neurophysiological studies, including EEG with pattern and intermittent light stimulation and visual evoked potentials.

Reading epilepsy with absences, television-induced seizures, and pattern sensitivity.

A 14-year-old right-handed girl suffering from absence seizures from age 6 began to have reflex seizures elicited by reading and watching television when she was 13. Neurophysiological studies showed pattern sensitivity and photo-sensitivity. VEPs, obtained with flash and pattern reversal stimulation, were normal.

Genetic aspects of nonconvulsive status epilepticus.

We studied the occurrence of seizure disorders within the immediate family in 3 groups of probands: (1) 64 epileptic children with nonconvulsive status epilepticus (NCSE); (2) 454 epileptic children who have had no episodes of NCSE; (3) 306 healthy children, matched for age and sex. Recurrence of seizures among relatives of epileptic probands without NCSE was significantly higher than among the general population, both in generalized and partial epilepsies. We also observed an increased incidence of convulsions among the relatives of probands with NCSE and the general population; no differences were noted between epileptic children with or without NCSE.

Unilateral photoconvulsive response in agenesis of the corpus callosum.

An 11-year-old female presented with the unusual coexistence of self-induced photogenic epilepsy and an atypical epileptiform ictal EEG pattern evoked by intermittent photic stimulation. The EEG showed irregular 2.5-4 Hz spike-wave and polyspike-wave complexes, strictly localized on the left hemisphere, and associated with impairment of consciousness and myoclonic jerking of the contralateral side of the body.