Marina Trivisano

Università degli studi di Foggia, Foggia, Apulia, Italy

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Publications (30)59.77 Total impact

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    ABSTRACT: Hypothalamic hamartomas (HHs) are intrinsically epileptogenic lesions associated to medically intractable focal epilepsy mainly characterized by gelastic and focal seizures. Intralesional recording with deep electrodes has documented the presence of ictal discharge arising from inside the lesion. Nevertheless interictal and ictal scalp EEG is poorly informative and non-localizing in a great deal of cases. HH disconnection leads to seizure remission in most cases. To describe the intralesional EEG recordings and to compare them with concomitant scalp EEG and with previous cases reported in literature. We reviewed the medical records of 17 children affected by drug-resistant focal epilepsy associated to HH. We recorded intralesional electrical activity during stereo-endoscopic disconnection in three cases and during deep brain stimulation implantation in one. We also correlated it with the simultaneous scalp-EEG recording. Acute intralesional recordings in our cases confirmed the presence of epileptiform abnormalities intermingled with low-voltage activity, mostly on the same side of the HH attachment. Paroxysmal activity recorded inside the HH was always evident. Mapping of HH epileptogenic activity could be useful to confirm the usefulness of disconnection procedure. This should consider on-site recording from the HH and if abnormalities are detected safely proceed to disconnection of the HH.
    Acta neurologica Belgica. 10/2014;
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    ABSTRACT: We report a 33 year-old woman addicted to chronic unspecified solvents abuse with stupor, respiratory disorders, tetraplegia and severe metabolic acidosis. On admission an unenhanced cranial CT scan showed symmetrical hypodensities of both lentiform nuclei. MR imaging performed 12 hours after stupor demonstrates bilateral putaminal hemorrhagic necrosis, bilateral external capsule, corona radiata and deep cerebellar hyperintensities with right cingulate cortex involvement. DWI reflected bilateral putaminal hyperintensities with restricted water diffusion as to citotoxic edema and development of vasogenic edema in the external capsule recalling a fork. On day twenty, after specific treatments MRI demonstrated a bilateral putaminal marginal enhancement. Bilateral putaminal necrosis is a characteristic but non-specific radiological finding of methanol poisoning. Lentiform Fork sign is a rare MRI finding reported in literature in 22 patients with various conditions characterized by metabolic acidosis. Vasogenic edema may be due to the differences in metabolic vulnerability between neurons and astrocytes. We postulate that metabolic acidosis could have an important role to generate this sign.
    The neuroradiology journal. 06/2014; 27(3):288-92.
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    ABSTRACT: Dravet syndrome (DS) is a rare disorder with seizure onset in the first year of life, typically beginning with prolonged febrile hemiclonic seizures or generalized tonic-clonic seizures. Photosensitivity is reported in more than 40% of patients. We present two cases of DS in which we had the chance to record occipital seizures induced by Intermittent Photic Stimulation (IPS). We retrospectively reviewed the medical records of 32 children affected by DS. All clinical notes were reviewed in order to evaluate the occurrence of seizures induced by IPS. Among the 32 reviewed clinical records, two patients with IPS-induced seizures were found. In both patients seizures originated from the occipital-temporal region. Clinical history was characterized by generalized tonic-clonic seizures, and myoclonia. At the age respectively of 11 months and 20 months they presented a prolonged focal seizure induced by IPS at a frequency of 10Hz. During the follow-up they additionally presented with hypomotor seizures, also induced by IPS during laboratory EEG examinations. The semiology of hypomotor seizures resembled what is described as "complex partial status", a type of non-convulsive status with ictal discharges arising unilaterally from the occipito-temporal region. Based on available literature, IPS induced occipital seizures have not been reported during the first year of life. Although pathophysiological features are not yet completely understood, both photosensitivity and occipital seizures should be considered in the diagnostic evaluation in DS. The documentation of IPS induced occipital seizures might contribute to widen the clinical and neurophysiological spectra of DS.
    Seizure 01/2014; · 2.00 Impact Factor
  • Nicola Specchio, Marina Trivisano, Giuseppe Pontrelli
    Epilepsy & Behavior 01/2014; 31:149–150. · 2.06 Impact Factor
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    American Journal of Medical Genetics Part A 03/2013; · 2.30 Impact Factor
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    ABSTRACT: "Ictal smile" is defined as a facial expression during a seizure, which usually translates happiness, clearly distinct from a tonic deviation of the mouth or other abnormal tonic-clonic movements involving the face, not associated to any happiness emotion (Epilepsia. 1998;39:1357-1360). It is a rare condition (6%-10% of patients; Epilepsia. 1998;39:1357-1360) and seems to be related to seizures arising from temporal or frontal regions (Brain. 2003;126:2121-2138).Anecdotal reports of brain perfusion SPECT performed during ictal and interictal phases (Epilepsia. 1998;39:1357-1360) do not supply, unfortunately, imaging documentation. Thus, we report the first evidence of brain perfusion abnormalities induced by ictal smile seizure.
    Clinical nuclear medicine 03/2013; · 3.92 Impact Factor
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    Seizure 01/2013; · 2.00 Impact Factor
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    ABSTRACT: Ring chromosome 14 [r(14)] is a rare disorder. The aim of this study was to describe two new cases of r(14) drug-resistant epilepsy, and, through an extensive review of literature, highlight those epileptological features which are more commonly found and which may help in early diagnosis, genetic counseling, and treatment. Epilepsy onset in r(14) syndrome takes place during the first year of life; seizures are generalized or focal and less frequently myoclonic. Seizures might be induced by fever. Focal seizures are characterized by staring, eye or head deviation, respiratory arrest, swallowing, and hypertonia/hypotonia or clonic movements. Ictal EEG might show both focal and diffuse discharges. Interictal EEG reveals mainly focal abnormalities. Mental retardation represents a constant feature. Neurological assessment yields a delay in motor skill acquisition and less frequently both pyramidal and cerebellar signs. Dysmorphic features are evident in the majority of cases. Epilepsy associated with r(14) has many features that entail a challenging diagnostic process. The reported cases of r(14)-related epilepsy seem to highlight a series of common elements which may be helpful in pointing the clinician towards a correct diagnosis.
    Epilepsy & Behavior 11/2012; 25(4):585-592. · 2.06 Impact Factor
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    ABSTRACT: Epileptic seizures, movement disorders and breathing disturbances may be observed in Rett syndrome, and correct diagnosis is mandatory for the management. We evaluated the usefulness of video-polygraphy in the differential diagnosis between epileptic and non-epileptic paroxysmal events in eight patients with Rett syndrome. Based on video analysis, myoclonic seizures were usually misdiagnosed as movement disorders and stereotypies; the events identified by parents as generalized tonic-clonic seizures included episodes of motor activity and breathing abnormality. Myoclonic seizures aggravated by inappropriate treatment were evident in four patients; hyperventilation and apnea during wakefulness were present in all patients, while central sleep apneas were present in one patient; sinus tachycardia and cardiac arrhythmias emerged in six patients; cortical myoclonus was disclosed in five patients. In Rett syndrome, video-polygraphy is essential in characterizing the clinical features of paroxysmal events, determining autonomic dysfunctions, documenting myoclonic motor phenomena, and evaluating the responses to the treatment of epilepsy.
    Epilepsy & Behavior 10/2012; 25(3):401-407. · 2.06 Impact Factor
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    ABSTRACT: BACKGROUND: Mutations of protein-rich transmembrane protein 2 (PRRT2) were recently associated to benign familial infantile seizures (BFIS) (MIM 605751) and paroxysmal kinesigenic dyskinesias (PKD) (MIM12800). AIMS: To report mutations of PRRT2 in BFIS, infantile convulsions and choreoathetosis (ICCA), and in sporadic cases affected by benign infantile epilepsy (BIE). METHODS: A mutational screening of PRRT2 was performed in 5 families, and in 7 sporadic cases affected by BIE. All clinical and neurophysiological details were reviewed. RESULTS: Thirty-three members among 5 families were collected. Fifteen individuals had infantile seizures and one had infantile seizures followed by paroxysmal kinesigenic dyskinesia (PKD). We found the c.649_650InsC PRRT2 mutation in all tested patients (13 out of 15). Age at onset ranged from 3.5 to 10 months. Focal seizures, with or without secondary generalization, occurred mainly in cluster. One patient at the age of 11 years presented with PKD successfully treated with carbamazepine. All patients had a normal cognitive development. Two out of 7 non-familial cases (28.5%) carried a de novo PRRT2 mutation: the c.649_650InsC mutation in one with clustered seizures at the age of 5 months and an unreported c.718C-T p.R240X mutation in the other who, after cluster focal seizures at the age of 5 months, experienced absences at the age of 5 years. CONCLUSION: Our findings emphasize that PRRT2 mutations might be responsible of both BFIS and ICCA, but might be causative also for sporadic cases of benign infantile seizures. The phenotypic spectrum comprises BFIS, ICCA, and PKD.
    European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society 08/2012; · 2.01 Impact Factor
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    Epilepsy & Behavior 05/2012; 24(2):288-9. · 2.06 Impact Factor
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    ABSTRACT: Congential hemifacial spasm is a rare condition that is characterized by the occurrence of paroxysmal hemifacial contractions in neonates. We review the clinical, neurophysiological, neuroimaging, and histopathological findings, as well as the differential diagnosis, therapeutic approach, and outcome of all the described cases. Moreover, we report two new cases including the ictal video-electroencephalography recordings. Hemifacial spasm starts early in life, and is characterized by unilateral, involuntary, irregular tonic or clonic contractions of muscles innervated by the seventh cranial nerve. Hemifacial spasm is associated with eyelid blinking, and sometimes with breathing irregularities, hyperventilation, and/or other neurological manifestations (dystonic movements, nystagmus). Interictal and ictal video-electroencephalography did not reveal epileptiform abnormalities. In all cases, brain magnetic resonance imaging showed a mass involving the cerebellar peduncle, the cerebellar hemisphere, or the floor of the fourth ventricle. The semiology of the paroxysmal attacks is probably due to the activation of cranial nerve nuclei through intralesional hypersynchronous discharges, as shown by the intraoperative recordings and functional brain imaging described in the literature. We point out the importance of identifying such seizures in order to make an early diagnosis of the underlying cerebral lesion.
    Developmental Medicine & Child Neurology 04/2012; 54(8):697-703. · 2.68 Impact Factor
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    Epilepsy research and treatment. 01/2012; 2012:460256.
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    ABSTRACT: The aim of the study was to evaluate interictal electroencephalogram features in 22 patients with Dravet syndrome from the onset of the disease through the next 5 years. Electroencephalogram was abnormal in 5 patients (22.7%) at onset, and in 17 (77.3%) at the end of the study. Epileptiform abnormalities (focal, multifocal, or generalized) were seen in 6 patients at the onset and in 14 (27% vs 64%) at the end of the study. Photoparoxysmal response was present in 41% of patients at the end of follow-up. No statistical differences were found between mutated and nonmutated groups regarding evolution of background activity, interictal abnormalities, and presence of photoparoxysmal response. Electroencephalogram findings seemed to be age dependent, variable among different patients, and not influenced by the presence of sodium channel, voltage-gated, type I, alpha subunit (SCN1A) mutation. The lack of specific epileptiform abnormalities contributes to the difficulty of patients' management in Dravet syndrome.
    Journal of child neurology 10/2011; 27(4):439-44. · 1.59 Impact Factor
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    ABSTRACT: Yawning is an involuntary sequence of mouth opening, deep inspiration, brief apnea, and slow expiration. Few cases of yawning as a clinical sign of epileptic seizures, ictally or postictally, have been reported. We report the video/EEG documentation of yawning as an ictal sign in a 31-year-old patient affected by drug-resistant focal epilepsy symptomatic of bilateral perisylvian polymicrogyria. Since the age of 10 she has had seizures characterized by yawning, staring, and eye blinking. Bilateral rhythmic frontotemporal spikes and waves characterized her EEG. We reviewed all reported cases and compared clinical and EEG features. We believe that yawning as part of an epileptic seizure might be considered a rare automatic behavior, like other automatisms frequently reported in epileptic seizures. Automatisms are more frequently described in patients with temporal lobe epilepsy, and involvement of the temporal lobe in most of the published cases may have led to this explanation. It is possible that yawning within epileptic seizures could be considered activation of distinct symptomatogenic cortex rather than a release phenomenon. This rare ictal manifestation should be recognized as epileptic to avoid misdiagnosis and treatment failure.
    Epilepsy & Behavior 09/2011; 22(3):602-5. · 2.06 Impact Factor
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    ABSTRACT: The objective of the study was to explore clinical, electroencephalography (EEG), neuropsychological features and prognosis of myoclonic-astatic epilepsy (MAE). Of 327 children aged between 1 and 9 years with a diagnosis of generalized epilepsy followed between 2000 and 2008, 18 (5.5%) had MAE. Male significantly predominated (88.9%). Age at onset ranged from 2.3 to 4.9 years (mean 3.6 years). Median follow-up period was 6.3 years. In addition to myoclonic-astatic seizures patients had myoclonic seizures (66.7%), drop attacks (72.2%), head drops (77.8%) absences (88.9%), tonic-clonic generalized seizure (77.8%), tonic seizures (38.9%), non-convulsive status epilepticus (16.7%). Seven patients (38.9%) had an epileptic encephalopathy. At onset, interictal epileptiform and slow abnormalities were recorded, respectively, in 100% and 77.8% of patients. EEG abnormalities disappeared in all patients within 4 years since the onset. At long-term follow-up, two patients developed focal abnormalities typical of rolandic epilepsy and two patients photosensitivity. On neuropsychological testing 66.7% of patients had a normal IQ (mean 81.2±17.0, range 47-105, median 84.5) after a mean period of 4.4 years since the last seizure. Sixteen out of 18 patients remitted within 3.5 years since the onset and in two patients tonic seizures persisted. MAE is generalized childhood epilepsy: although cognitive functions might deteriorate, outcome is good regarding seizures.
    Epilepsy research 08/2011; 97(1-2):133-41. · 2.48 Impact Factor
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    ABSTRACT: Spasticity is a state of sustained pathological increase in the tension of a muscle. Treatment for spasticity has been revolutionized by the introduction of intrathecal baclofen (ITB) continuous infusion. ITB is associated with a 30% rate of complications mostly as a result of catheter problems that lead to acute ITB withdrawal. We describe a 10-year-old girl with spastic quadriplegia caused by cerebral palsy successfully treated with ITB who developed dystonic-dyskinetic status following acute ITB withdrawal because of a catheter kink resolved by external manipulation. The patient presented with a subacute onset of generalized malaise characterized by anorexia, difficulty in speaking and swallowing, insomnia, worsening of hypertonus with a left predominance, and late appearance of dystonic-dyskinetic movements. Soon after hospitalization the child had a generalized tonic-clonic seizure followed by unresponsiveness. One hour later she developed multiple muscle contractions with dystonic posturing and continuous chaotic movements. She also had pyrexia, tachycardia, and hypertension. A video/EEG recording showed the nonepileptic nature of the symptoms and revealed dystonic-dyskinetic status. We report the clinical features and the video recording of the status. The prompt recognition of this life-threatening complication is essential, as rapid treatment may reduce the increased risk of death. Misdiagnosis is possible, and video/EEG monitoring is useful to this end. Although differing among patients, all symptoms are related to overexcitability of the extrapyramidal and autonomic systems.
    Epilepsy & Behavior 05/2011; 21(3):321-3. · 2.06 Impact Factor
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    ABSTRACT: There have been few case reports of perioral myoclonia with absences (POMA) because of the lack of video-polygraphic recordings clarifying the electroencephalogram (EEG)-electromyogram (EMG) correlations. We describe one of the first video-polygraphic studies of POMA in a patient who underwent repeated and prolonged split-screen video-polygraphic recordings. The ictal EEG showed generalized and irregular discharges of spikes or multiple spikes and slow waves, while two concomitant EMG patterns appeared: (1) a rhythmic enhancement of the orbicularis oris and masseter muscles on both sides with minimal asymmetry corresponding to perioral movements, and (2) a progressive increment in muscular tone in the mylohyoideus muscle corresponding to oroalimentary automatisms. Myoclonic jerks were inconstantly time-locked to the spike component of the spike-wave complex. The evidence of a complex pattern of activation of the facial muscles suggests that the involvement of subcortical central pattern generators, related to masticatory activity, through the disinhibitory effect of the spike-wave discharge is a possible pathophysiological mechanism underlying POMA.
    Epilepsy & Behavior 05/2011; 21(3):314-7. · 2.06 Impact Factor
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    ABSTRACT: To describe clinical and neuropsychological features of six consecutive sporadic girls with protocadherin 19 (PCDH19) mutations. Following recent descriptions of PCDH19 mutation in girls with epilepsy, we sequenced this gene in patients with infantile or early childhood seizures onset, either focal or generalized, without an obvious etiology. Mean age at the time of the study was 13.5 ± 11 years. Mean age at seizure onset was 15.5 ± 11 months (range 9-38). All patients experienced clusters of either focal or generalized seizures, precipitated during febrile illness in five patients. Attacks were very frequent at onset, but they became less numerous during follow-up. Ictal electroencephalography (EEG) showed temporal lobe involvement in five patients. Periictal EEG showed focal or multifocal epileptiform and slow abnormalities. Cognitive impairment became obvious after seizure onset in three patients and was associated with autistic features in two. Genetic analysis revealed five new and one known de novo PCDH19 mutation that were missense in four and frameshift in two. Variants are clustered in the large exon 1, corresponding to the extracellular domain of the PCDH19 protein. Our findings emphasize that de novo PCDH19 mutations are associated with infantile or early childhood onset of febrile or afebrile seizures often occurring in clusters. Cognitive impairment is not constantly present and autistic features are observed in some patients. Most patients have a "stormy" seizure onset, often related to fever; however, seizure severity does not clearly correlate with the degree of cognitive deficit. PCDH19 is likely a major epilepsy gene; phenotypes associated with mutations of this gene range from epileptic encephalopathies to mild epilepsy, yet large series of patients will be necessary to fully delineate phenotypic spectrum.
    Epilepsia 04/2011; 52(7):1251-7. · 3.96 Impact Factor
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    ABSTRACT: To demonstrate the clinical importance of using a high quality photic stimulator for recording EEGs to diagnose photosensitivity. We performed EEG examinations on 2 adult and 2 paediatric patients with a history of visually induced seizures; routinely we used a Grass PS 40 photic stimulator (rectangular Xenon lamp giving flashes of 10 μs duration, 0.7J, 1-30 Hz, width 7 cm, length 12 cm). We repeated the IPS with a Grass PS 33 plus stimulator (round Xenon lamp giving flashes of 10 μs duration, 1J, 1-60 Hz, diameter 14 cm). Patients were affected by both benign and catastrophic epilepsies. They complained about episodes of dizziness (case 1), dizziness accompanied by a sensation in the arms and fear (case 2), absences (case 3), and myoclonic jerks (case 4). These symptoms occurred when working with neon lights, computers or ironing striped clothes (case 1), while driving (case 2), whenever there was sunlight (case 3 and 4). Only IPS performed with the Grass PS 33 plus stimulator evoked PPRs accompanied by their typical complaints. In all cases, the revised diagnosis led to changes in their treatment and the disappearance or diminishment of their complaints and PPR range. A PPR can occur in various types of epilepsy, can have a different meaning, and requires a different therapeutic intervention. Only an appropriate photic stimulator with diffuse white light and a flash intensity level of 1J/flash, can reliably demonstrate whether a patient is photosensitive, or equally important exclude it.
    Brain & development 04/2011; 33(4):294-300. · 1.74 Impact Factor