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1.
Epilepsy Behav ; 122: 108189, 2021 09.
Article in English | MEDLINE | ID: mdl-34252828

ABSTRACT

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. Self-induction methods are widely described in photo-sensitive patients, while there are only a few reports of those who are pattern-sensitive. We analyzed 73 images of environmental visual triggers collected from 14 pattern-sensitive patients with self-induced seizures. The images were categorized according to their topics: 29 Objects (43%); 19 Patterns (28%); 15 External scenes (22%); 4 TV or computer screens (6%). Six photos were of poor quality and were excluded from analysis. Images were analyzed by an algorithm that calculated the degree to which the Fourier amplitude spectrum differed from that in images from nature. The algorithm has been shown to predict discomfort in healthy observers. The algorithm identified thirty-one images (46%) as "uncomfortable". There were significant differences between groups of images (ANOVA p = .0036; Chi2 p < .0279), with higher values of difference from nature in the images classified as "Objects" (mean 6,81E+11; SD 6,72E+11; n.17, 59%) and "Pattern" (mean 9,05E+11; SD 6,86E+11; n.14, 74%). During the semi-structured face-to-face interviews, all patients described the visual triggers as 'uncomfortable'; the appearance of enjoyable visual epileptic symptoms (especially multi-colored hallucinations) transformed uncomfortable images into pleasant stimuli. Patients considered self-induction as the simplest and most effective way to overcome stressful situations, suggesting that self-inducing pattern-sensitive patients often use uncomfortable visual stimuli to trigger their seizures. Among the reasons for the self-inducing behavior, the accidental discovery of pleasurable epileptic symptoms related to these "uncomfortable" visual stimuli should be considered.


Subject(s)
Epilepsy , Epilepsy/complications , Humans , Photic Stimulation , Seizures
3.
Epilepsy Res ; 164: 106345, 2020 08.
Article in English | MEDLINE | ID: mdl-32388124

ABSTRACT

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 ± 2.9 years) with idiopathic occipital lobe epilepsy and reflex seizures (RS); ii) 13 non-photosensitive patients (6 males, 7 females; mean age 11.7 ± 5.3) with idiopathic occipital lobe epilepsy; 20 healthy controls (12 males, 8 females; mean age 10.0 ± 3.4). After written informed consent, all subjects underwent a standard procedure of visual stimulation with intermittent light and pattern stimulation, under digital video-EEG recording. The EEG signal was processed off-line by averaging analysis for each stimulus to obtain the corresponding VEP. Comparisons among groups showed no significant differences for P100 latency. Higher P100 amplitude as well as higher after-discharge (AD) were found in photosensitive patients with RS. Thirty-seven of these patients had one or more RS during the procedure of stimulation for a total of 66 episodes. Significant increases of P100 amplitude and higher values of AD amplitude were found in relation to the occurrence of photoparoxysmal response (PPR) and/or seizures during full-field pattern stimulation. The increase in amplitude of the AD was higher when PPR was associated with seizures. The high amplitude of early VEP components confirms the abnormal hyperexcitability in the cortex of photosensitive patients with occipital lobe epilepsy. Moreover, the AD amplitude appears to be related to electro-clinical expression, being greater when PPR evolves into clinically evident seizures.


Subject(s)
Epilepsies, Partial/physiopathology , Epilepsy, Reflex/physiopathology , Evoked Potentials, Visual/physiology , Seizures/physiopathology , Adolescent , Cerebral Cortex/physiology , Child , Epilepsies, Partial/complications , Female , Humans , Male , Neurologic Examination/methods , Seizures/complications
5.
Epilepsy Behav Case Rep ; 11: 31-34, 2019.
Article in English | MEDLINE | ID: mdl-30603611

ABSTRACT

The clinical significance of Xp22.31 microduplication is still unclear. We describe a family in which a mother and two children have Xp22.31 microduplication associated with different forms of epilepsy and epileptiform EEG abnormalities. The proband had benign epilepsy with centrotemporal spikes with dysgraphia and dyscalculia (IQ 72), the sister had juvenile myoclonic epilepsy, and both had bilateral talipes anomalies. The mother, who was the carrier of the microduplication, was asymptomatic. The asymptomatic father did not possess the microduplication. These data contribute to delineate the phenotype associated with Xp22.31 microduplication and suggest a potential pathogenic role for an epilepsy phenotype.

6.
Eur J Med Genet ; 62(12): 103591, 2019 Dec.
Article in English | MEDLINE | ID: mdl-30500434

ABSTRACT

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_153033.4: c.[533C > T], NP_694578: p.[(Ala178Val)]) was a 17-year-old girl who presented with early-onset epilepsy resembling epilepsia partialis continua (responsive to intravenous corticosteroids and immunoglobulins), and later developed myoclonic seizures and atypical absences, photosensitivity to very low frequencies and progressive seizures-related neurocognitive and motor deterioration. Patient 2 (NM_153033.4: c.[172G>A], NP_694578: p.[(Gly58Arg)]) presented with early neurological regression, myoclonic seizures and lysosomal storage material which was consistent with a neuronal ceroid lipofuscinosis (NCL) at skin biopsy. Both patients had non epileptic myoclonus. CONCLUSIONS: The two reported patients carrying novel pathogenic variants in KCTD7 gene presented with a remarkable phenotypic heterogeneity including: a) progressive myoclonus epilepsy without NCL-type lysosomal storages; b) progressive myoclonus epilepsy with lysosomal storages resembling NCL pattern (NCL14); c) progressive myoclonus epilepsy with epilepsia partialis continua.


Subject(s)
Epilepsies, Myoclonic/genetics , Lysosomal Storage Diseases/genetics , Neuronal Ceroid-Lipofuscinoses/genetics , Phenotype , Potassium Channels/genetics , Adolescent , Child , Electroencephalography , Epilepsies, Myoclonic/diagnostic imaging , Epilepsies, Myoclonic/pathology , Female , Humans , Lysosomal Storage Diseases/diagnostic imaging , Lysosomal Storage Diseases/pathology , Neuronal Ceroid-Lipofuscinoses/diagnostic imaging , Neuronal Ceroid-Lipofuscinoses/pathology , Skin/metabolism , Skin/pathology , Syndrome
7.
Epileptic Disord ; 17(4): 372-83, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26586031

ABSTRACT

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: 14.0±6.9 years) who presented PEM. The epilepsy was idiopathic generalized (eight cases), idiopathic focal (six cases), symptomatic focal (five cases), and reflex epilepsy (seven cases). PEM and blinking were analysed by video-EEG recordings at rest and during intermittent photic stimulation, pattern stimulation, and TV watching. Blink rate was evaluated during three different conditions: at rest, during a TV-viewing period, and at the occurrence of PEM. Analysis of variance (ANOVA) was used for statistical comparisons. RESULTS: Repeated episodes of PEM were recorded in all patients. The frequency of PEM ranged from 8 to 12.5 Hz (average: 9.6±1.5). PEM were accompanied by a significant increase in blinking compared to the rest condition and TV watching (blink rate: 56.5±21.1 vs 25.0±16.2 vs 11.3±11.8, respectively; p<0.0001). Photoparoxysmal EEG responses (measured as sensitivity to photic stimulation) were found in 25 cases, associated with pattern sensitivity in 22; only one patient was sensitive to pattern but not photic stimulation. Visually-induced seizures were recorded in 20 cases, triggered by both stimuli (photic and pattern stimulation) in 11 patients; seizures were triggered by pattern stimulation (but not photic stimulation) in five, photic stimulation (but not pattern stimulation) in three, and TV watching (but not photic or pattern stimulation) in one. Epileptic eyelid myoclonia was noted in 17 patients. CONCLUSION: The coexistence of PEM, photoparoxysmal EEG responses, increased blinking, and epileptic eyelid myoclonia suggests an underlying dysfunction involving cortical-subcortical neural networks, according to the recent concept of system epilepsies. [Published with video sequences].


Subject(s)
Blepharospasm/physiopathology , Epilepsies, Myoclonic/physiopathology , Epilepsy, Reflex/physiopathology , Eyelids/physiopathology , Reflex/physiology , Seizures/physiopathology , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Photic Stimulation , Young Adult
8.
Seizure ; 29: 90-6, 2015 Jul.
Article in English | MEDLINE | ID: mdl-26076849

ABSTRACT

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. RESULTS: The proband suffered from speaking induced jaw-jerks and increasing limb jerks evoked by flickering sunlight since about 50 years of age. Three of her family members had the same phenotype. Generalized PPRs were found in seven members (six above 50 years of age) with myoclonus during the PPR. Evolution was typical: Sensitivity to lights with migraine-like complaints around adolescence, followed by jerks evoked by lights and spontaneously with dropping of objects, and strong increase of light sensitivity and onset of talking induced jaw jerks around 50 years. Linkage analysis showed suggestive evidence for linkage to four genomic regions. All photosensitive family members shared a heterozygous R129C mutation in the SCNM1 gene that regulates splicing of voltage gated ion channels. Mutation screening of 134 unrelated PPR patients and 95 healthy controls, did not replicate these findings. CONCLUSION: This family presents a combination of two rare reflex epilepsies. Genetic analysis favors four genomic regions and points to a shared SCNM1 mutation that was not replicated in a general cohort of photosensitive subjects. Further genetic studies in families with similar combination of features are warranted.


Subject(s)
Carrier Proteins/genetics , Epilepsy, Reflex/genetics , Epilepsy, Reflex/physiopathology , Adult , Aged , Aged, 80 and over , Family , Female , Humans , Male , Middle Aged , Mutation , Netherlands , Pedigree , Phenotype , Photic Stimulation , RNA Splicing Factors , White People/genetics , Young Adult
10.
Exp Diabetes Res ; 2011: 640535, 2011.
Article in English | MEDLINE | ID: mdl-21977021

ABSTRACT

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). In 3 cases (19%), we found pathological responses (+3 SD from the mean value of controls) of VEPs and SEPs. At the age of 3 years, the offspring of type 1 diabetic mothers showed delay of cortical evoked responses in both visual and somatosensory systems.


Subject(s)
Diabetes Complications/etiology , Diabetes Mellitus, Type 1/complications , Evoked Potentials, Somatosensory , Evoked Potentials, Visual , Prenatal Exposure Delayed Effects , Visual Cortex/physiopathology , Age Factors , Analysis of Variance , Case-Control Studies , Chi-Square Distribution , Child, Preschool , Diabetes Complications/diagnosis , Diabetes Complications/physiopathology , Diabetes Mellitus, Type 1/physiopathology , Electric Stimulation , Electroencephalography , Female , Humans , Infant , Italy , Male , Median Nerve , Photic Stimulation , Pregnancy , Reaction Time , Time Factors
11.
J Child Neurol ; 25(2): 238-45, 2010 Feb.
Article in English | MEDLINE | ID: mdl-19738236

ABSTRACT

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. In this article, we report the case of 2 boys with Pallister-Killian syndrome having late-onset, drug-resistant epileptic spasms. Seizures have been reported in 40% of patients with Pallister-Killian syndrome but are poorly described. Epileptic spasms are not unusual in patients with brain malformations, chromosomal aberrations, and genetic syndromes, but epileptic spasms could be easily mistaken for behavioral manifestations. A better electroclinical characterization of epileptic seizures in Pallister-Killian syndrome using appropriate polygraphic tests (video-electroencephalography, electromyography) may lead to an early diagnosis and specific treatment for this form of epileptic spasms caused by this rare syndrome.


Subject(s)
Abnormalities, Multiple/pathology , Abnormalities, Multiple/physiopathology , Brain/pathology , Brain/physiopathology , Seizures/pathology , Seizures/physiopathology , Abnormalities, Multiple/genetics , Age of Onset , Child , Electroencephalography , Electromyography , Evoked Potentials, Visual , Humans , Karyotyping , Magnetic Resonance Imaging , Male , Muscle, Skeletal/physiopathology , Rare Diseases/genetics , Rare Diseases/pathology , Rare Diseases/physiopathology , Seizures/genetics , Syndrome
12.
Open Neurol J ; 3: 72-84, 2009 Oct 09.
Article in English | MEDLINE | ID: mdl-19911069

ABSTRACT

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. RESULTS: In newborns, three laboratories showed satisfactory concordance; wave I was more broadly distributed than wave V and IPL I-V. The evaluation of pooled BAEP data from the older children showed that laboratories with age-matched data gave overlapping results; those with unmatched-age data differed significantly. The sound intensities of the laboratories did not significantly affect absolute BAEP latencies or IPLs. Females had shorter latencies than males; the difference was not significant. A single exponential regression model was an adequate but not the best predictor of normal data. CONCLUSIONS: The pooled data were consistent with the physiological maturation of the brainstem acoustic pathway. The BAEPs was reliably normalised using the natural logarithm of age. The differences between Centres were related to sample size, measurement accuracy, and inclusion and selection criteria. SIGNIFICANCE: The creation of multicentre common database from an unmatched data collection is feasible and reliable enough for clinical diagnosis and multicentre clinical research.

14.
Epilepsia ; 47 Suppl 5: 36-40, 2006.
Article in English | MEDLINE | ID: mdl-17239104

ABSTRACT

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 6.4 - 27.6). All cases had regular clinical examinations and serial electroencephalographic (EEG) recordings. Photosensitivity and pattern sensitivity were ascertained neurophysiologically in all cases. Outcome was evaluated according to the following variables: duration of photosensitivity, rate of remission (seizure-free period > or = 2 years), withdrawal of therapy, and recurrence after drug discontinuation. RESULTS: The epilepsy was generalized in 18 cases (17 idiopathic, one symptomatic) and partial in 17 (13 idiopathic, four symptomatic). Sixteen patients (46%) had a family history of seizures. The mean age at the last examination was 21.4 years (range 11.2-35.5 years). Five patients (14%) had only reflex seizures. The most common type of spontaneous seizures was generalized (60%), whereas reflex seizures were more frequently partial (74%). Mean epilepsy duration was 8.7 +/- 6.3 years. Patients with only reflex seizures were instructed to avoid precipitating stimuli and were not treated with antiepileptic drugs. Treatment was gradually withdrawn in 10 out of 30 treated patients, with relapse in only two cases. At the end of follow up, 28 patients (80%) were seizure-free. CONCLUSION: The long-term outcome of patients with pattern-sensitive epilepsy indicates a good prognosis with a favorable course for both spontaneous and reflex seizures.


Subject(s)
Epilepsy, Reflex/diagnosis , Adolescent , Adult , Age of Onset , Anticonvulsants/therapeutic use , Child , Disease-Free Survival , Electroencephalography/statistics & numerical data , Epilepsy, Generalized/diagnosis , Epilepsy, Generalized/drug therapy , Epilepsy, Reflex/drug therapy , Epilepsy, Reflex/therapy , Female , Follow-Up Studies , Humans , Male , Outcome Assessment, Health Care , Prognosis , Prospective Studies , Secondary Prevention , Treatment Outcome
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