Publications by authors named "Lucia Fusco"

52 Publications

Inflammation in pediatric epilepsies: Update on clinical features and treatment options.

Epilepsy Behav 2021 Apr 15:107959. Epub 2021 Apr 15.

Department of Pediatric Neurology, Necker Enfants Malades Hospital, Reference Centre for Rare Epilepsies and Member of the ERN EpiCARE, Imagine Institute UMR1163, Paris Descartes University, Paris, France.

The role of inflammation is increasingly recognized in triggering or sustaining epileptic activity. In the last decades, increasing research has provided definite evidence to support the link between immunity, inflammatory process, and epilepsy. Neuro- and systemic inflammation play a pivotal role in driving epileptogenesis through different pathogenetic mechanisms: the activation of innate immunity in glia, neurons, and microvasculature, the brain mediated by blood-brain barrier (BBB) impairment, and the imbalance of pro- and anti-inflammatory molecules produced by both arms of immunity. More recently, research has focused on the adverse effects of maternal or early-life immune activation and cytokine imbalance on fetal neurodevelopment and postnatal epilepsy. A complex crosstalk between the immune and nervous system, and a crucial interplay of genetic, epigenetic, and environmental factors may influence structures and functions of the developing brain. A better understanding of the inflammatory process in promoting epilepsy implies that targeting specific pathways may be effective in seizure control. Multiple targets have been identified so far, and several antiseizure interventions are obtained by inhibiting inflammatory signaling or protecting/restoring BBB. All this evidence has changed the field of epilepsy research and neuropharmacology. Further developments and new treatments will rapidly emerge to improve seizure management in inflammation-related epilepsies. This article is part of the Special Issue "Severe Infantile Epilepsies".
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http://dx.doi.org/10.1016/j.yebeh.2021.107959DOI Listing
April 2021

Three different scenarios for epileptic spasms.

Epilepsy Behav 2020 12 25;113:107531. Epub 2020 Nov 25.

Intensive Neurological Diagnostic Unit, Neuroscience Department, Bambino Gesù Children's Hospital, Rome, Italy.

Epileptic Spasms (ES) is a type of seizure usually occurring in the context of a severe childhood epileptic syndrome associated to significant Electroencephalogram (EEG) abnormalities. There are three scenarios in which ES may occur. The first one is represented by West Syndrome (WS): ES occur in a previously non encephalopathic infant in association with the development of a hypsarrhythmic EEG pattern. In most cases, standard treatment with Adrenocorticotropic Hormone (ACTH), steroids or vigabatrin leads to a reversal of the electroclinical picture. The second scenario is represented by Developmental and Epileptic Encephalopathies (DEEs): ES are documented, often along other seizures types, in an infant who often shows developmental delay since birth; the EEG pattern is pathological both in wakefulness and in sleep, without typical features of hypsarrhythmia; therapies (with the exception of few potentially treatable syndromes) are poorly effective. The last scenario is represented by ES in the context of Focal Epilepsies (FEs): ES, sometimes showing focal signs or closely related to focal seizures, are associated with focal brain lesions. Treatment with ACTH, steroids or vigabatrin may not be effective as well as antiepileptic drugs for focal epilepsies. In drug-resistant patients, surgery should be considered. Although there are some gaps in our current scientific knowledge concerning the peculiar electroclinical and physiopathological features of ES, we nowadays possess the necessary tools to correctly frame this unique seizure type into one of these scenarios and therefore properly manage the diagnostic and therapeutic workup.
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http://dx.doi.org/10.1016/j.yebeh.2020.107531DOI Listing
December 2020

Posterior Reversible Encephalopathy Syndrome in infants and young children.

Eur J Paediatr Neurol 2021 Jan 28;30:128-133. Epub 2020 Oct 28.

Unit of Pediatric Oncology and Haematology "Lalla Seràgnoli", Department of Pediatrics, Sant'Orsola Hospital, University of Bologna, Bologna, Italy. Electronic address:

Aim: The aim of this study was to describe the characteristics of Posterior Reversible Encephalopathy Syndrome (PRES) in infants and young children (<6 years) and to compare them with the older pediatric population affected by PRES.

Methods: we retrospectively reviewed records of 111 children (0-17 years) diagnosed with PRES from 2000 to 2018 in 6 referral pediatric hospitals in Italy. The clinical, radiological and EEG features, as well as intensive care unit (ICU) admission rate and outcome of children aged <6 years were compared to those of older children (6-17 years). Factors associated with ICU admission in the whole pediatric cohort with PRES were also evaluated.

Results: Twenty-nine patients younger than 6 years (26%) were enrolled with a median age at onset of PRES of 4 years (range: 6 months-5 years). Epileptic seizures were the most frequent presentation at the disease onset (27/29 patients). Status epilepticus (SE) was observed in 21/29 patients: in detail, 11 developed convulsive SE and 10 presented nonconvulsive SE (NCSE). SE was more frequent in children <6 years compared with older children (72% vs 45%) as well as NCSE (35% vs 10%). Seventeen children aged <6 years required ICU admission. Prevalence of ICU admissions was higher within younger population compared to older (59% vs 37%). In the whole study population SE was significantly associated with ICU admission (p = 0.001).

Conclusions: PRES in children < 6 years differs from older children in clinical presentation suggesting a more severe presentation at younger age.
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http://dx.doi.org/10.1016/j.ejpn.2020.10.009DOI Listing
January 2021

Neonatal seizures: When semiology points to etiology.

Seizure 2020 Aug 18;80:161-165. Epub 2020 Jun 18.

Neurology Department, Ospedale Pediatrico Bambino Gesù, Roma, Italy. Electronic address:

Objective: The aim of our study was to evaluate the relationship between seizure semiology and etiological factors in our population of neonates, in pointing out that specific kinds of clinical presentation are strictly related to specific etiologies.

Methods: We selected neonates which presented clinical seizures during video-EEG monitoring performed in Neonatal and Neurological Units between 2010 and 2017. We excluded patients with electrographic seizures only or video-EEGs of poor quality. Seizures were divided into the main subgroups "motor" (focal clonic, focal tonic and myoclonic) and "non motor". For each patient we evaluated etiology, considering two major categories: acute and remote symptomatic.

Results: The study included 65 patients, including 44 with an acute symptomatic cause and 21 with remote symptomatic etiology. Focal motor clonic seizures were almost exclusively associated to acute symptomatic etiology (p < 0.05), mainly to stroke and infective causes. Focal motor tonic seizures were the prevalent type of seizures in remote symptomatic etiologies (p < 0.05). They were observed mainly in patients with Developmental Epileptic Encephalopathy. Focal non motor seizures were more represented in acute symptomatic causes (p = 0.01) and were the main type of seizure in HIE.

Conclusions: Seizure semiology in neonates may help physicians in the early recognition of specific etiologies. In particular, focal clonic seizures are strongly suggestive of acute symptomatic causes, allowing an early diagnosis and treatment.
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http://dx.doi.org/10.1016/j.seizure.2020.06.025DOI Listing
August 2020

Pediatric status epilepticus: Identification of prognostic factors using the new ILAE classification after 5 years of follow-up.

Epilepsia 2019 12 12;60(12):2486-2498. Epub 2019 Nov 12.

Department of Neuroscience, Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy.

Objective: Status epilepticus (SE) is the most common neurologic emergency in childhood. This study aimed to report on a large cohort of pediatric patients with SE, applying the International League Against Epilepsy (ILAE) Classification for SE to identify prognostic factors.

Methods: We included 173 children treated at "Bambino Gesù" Children's Hospital in Rome for SE exceeding 30 minutes (mean age 4.43 ± 4.93 years old, median 2.28, interquartile range [IQR] 0.41-7.32; follow-up for a mean of 4.9 ± 3.4 years, median 8.75, IQR 4,58-12.63). A multivariate model was constructed to predict neurocognitive outcome, recurrence of SE, development of epilepsy, and mortality. Adjusted odds ratios [ORs] were calculated with 95% confidence interval (OR, 95% CIs).

Results: We observed a different prevalence of etiologies for the different semiologies (P < .05) and for each age group (P < .05), overlapping only in part with the recent ILAE classification. After SE, patients showed 69.9% epilepsy (drug-resistant in half of them), 23.1% worsening of neurologic findings on examination, 28.9% cognitive deficit, and 28.3% recurrent SE. At multivariate analysis: superrefractory SE was correlated to an increased risk of developing cognitive (OR 6.00, 95% CI 2.09, 17.31) or neurologic sequelae (OR 4.9, 95% CI 1.75, 19.77). A similar finding was observed for patients with onset in the neonatal period for cognitive (OR 4.84, 95% CI 1.13, 17.3) and neurologic sequelae (OR 9.03, 95% CI 2.40, 34.04). Recurrence of SE was associated with unknown etiology (OR 6.15, 95% CI 1.43, 26.76), and myoclonic semiology (OR 6.1, 95% CI 1.23, 29.3). Patients with acute symptomatic etiology (OR 0.12, 95% CI 0.04, 0.40) had a lower risk for developing epilepsy.

Significance: Age at onset and duration of SE were critical independent variables associated with worse neurocognitive outcome. The risk of developing epilepsy was lower after acute symptomatic and febrile SE. Semiology and age at onset correlate with etiology of SE. For this reason, ILAE classification with respect to four axes seems an appropriate advancement.
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http://dx.doi.org/10.1111/epi.16385DOI Listing
December 2019

Febrile infection-related epilepsy syndrome (FIRES): prevalence, impact and management strategies.

Neuropsychiatr Dis Treat 2019 9;15:1897-1903. Epub 2019 Jul 9.

Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy.

Febrile infection-related epilepsy syndrome (FIRES) is a rare catastrophic epileptic encephalopathy with a yet undefined etiology, affecting healthy children. It is characterized by acute manifestation of recurrent seizures or refractory status epilepticus preceded by febrile illness, but without evidence of infectious encephalitis. To date, the absence of specific biomarkers poses a significant diagnostic challenge; nonetheless, early diagnosis is very important for optimal management. FIRES is mostly irreversible and its sequelae include drug-resistant epilepsy and neuropsychological impairments. The treatment of FIRES represents a significant challenge for clinicians and is associated with low success rates. Early introduction of ketogenic diet seems to represent the most effective and promising treatment. This review aims to highlight the most recent insights on clinical features, terminology, epidemiology, pathogenesis, diagnostic challenges and therapeutic options.
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http://dx.doi.org/10.2147/NDT.S177803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635824PMC
July 2019

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy.

Eur J Paediatr Neurol 2019 Jul 24;23(4):657-661. Epub 2019 May 24.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

GRIN1 encodes the obligate subunit (GluN1) of glutamate N-methyl-d-aspartate receptor (NMDAr). Pathogenic variants in GRIN1 are a well-known cause of infantile encephalopathy characterized by profound developmental delay (DD), variable epileptic phenotypes, and distinctive behavioral abnormalities. Recently, GRIN1 has also been implicated in the pathogenesis of polymicrogyria (PMG). We investigated two patients presenting with severe intellectual disability (ID), epilepsy, stereotyped movements, and abnormal ocular movements. They showed distinctive circadian rhythm alterations and sleep-wake patterns anomalies characterized by recurrent cyclic crying or laughing spells. Genetic analysis led to the identification of two distinct de novo variants in GRIN1 affecting the same amino acid residue of an important functional protein domain. Recent advances in circadian rhythm and sleep regulation suggest that abnormal GluN1 function might play a relevant pathogenetic role for the peculiar behavioral abnormalities observed in GRIN1 patients. Our cases highlight the relevance of circadian rhythm abnormalities in epileptic children as a clue toward GRIN1 encephalopathy and expand the complex phenotypic spectrum of this severe genetic disorder.
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http://dx.doi.org/10.1016/j.ejpn.2019.05.011DOI Listing
July 2019

Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy.

Epilepsy Behav 2019 07 4;96:219-223. Epub 2019 Jun 4.

Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

Developmental and epileptic encephalopathy (DEE) due to SCN8A gene variants is characterized by drug-resistant early onset epilepsy associated with severe intellectual disability. Different seizure types have been reported, and a sequence of autonomic manifestations such as brady-/tachycardia, irregular breathing, and cyanosis. Nevertheless, an exhaustive video-polygraphic documentation is still lacking. In this study, we reviewed the ictal electroencephalograms (EEGs) of five patients with SCN8A-DEE followed-up at the Neuroscience Department at Bambino Gesù Children's Hospital in Rome. We identified generalized tonic seizure as the major seizure type at epilepsy onset. Seizure severity could vary from subtle to marked clinical manifestations, depending from the extent and groups of muscles involved and association with autonomic modifications. We found autonomic signs in 80% of seizures in our cases, and we were able to identify a stereotyped sequence of ictal events for most of seizures. Autonomic signs occurred in rapid sequence: flushing of the face, sometimes associated with sialorrhea, bradycardia, and hypopnea appeared within the first 1-2 s. Tachycardia, polypnea, perioral cyanosis, and pallor occurred later in the course of the seizure. Generalized tonic seizures are rarely described in other genetic epileptic conditions of early infancy because of ion channel mutations, such as in DEE due to KCNQ2 or SCN2A gene mutations, where seizures are most frequently reported as focal to bilateral tonic. Therefore, generalized symmetric tonic seizures with autonomic signs can be considered a clinical hallmark for diagnosis of SCN8A-related DEE and relevant for therapeutic implications.
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http://dx.doi.org/10.1016/j.yebeh.2019.03.043DOI Listing
July 2019

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.

Hum Mutat 2019 05 9;40(5):601-618. Epub 2019 Mar 9.

Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Mitochondria are highly dynamic organelles, undergoing continuous fission and fusion. The DNM1L (dynamin-1 like) gene encodes for the DRP1 protein, an evolutionary conserved member of the dynamin family, responsible for fission of mitochondria, and having a role in the division of peroxisomes, as well. DRP1 impairment is implicated in several neurological disorders and associated with either de novo dominant or compound heterozygous mutations. In five patients presenting with severe epileptic encephalopathy, we identified five de novo dominant DNM1L variants, the pathogenicity of which was validated in a yeast model. Fluorescence microscopy revealed abnormally elongated mitochondria and aberrant peroxisomes in mutant fibroblasts, indicating impaired fission of these organelles. Moreover, a very peculiar finding in our cohort of patients was the presence, in muscle biopsy, of core like areas with oxidative enzyme alterations, suggesting an abnormal distribution of mitochondria in the muscle tissue.
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http://dx.doi.org/10.1002/humu.23729DOI Listing
May 2019

Re-emergence of SSPE: Consequence of the decline of adherence to vaccination programmes?

Eur J Paediatr Neurol 2019 03 30;23(2):338-340. Epub 2018 Dec 30.

Department of Biomedical and Clinical Sciences, L. Sacco, University of Milan, Italy; Department of Child Neurology, V. Buzzi Children's Hospital, University of Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.12.010DOI Listing
March 2019

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.

Epilepsia 2018 12 19;59(12):2260-2271. Epub 2018 Nov 19.

Epilepsy Center, San Paolo Hospital, Milan, Italy.

Objective: PCDH19-related epilepsy is an epileptic syndrome with infantile onset, characterized by clustered and fever-induced seizures, often associated with intellectual disability (ID) and autistic features. The aim of this study was to analyze a large cohort of patients with PCDH19-related epilepsy and better define the epileptic phenotype, genotype-phenotype correlations, and related outcome-predicting factors.

Methods: We retrospectively collected genetic, clinical, and electroencephalogram (EEG) data of 61 patients with PCDH19-related epilepsy followed at 15 epilepsy centers. All consecutively performed EEGs were analyzed, totaling 551. We considered as outcome measures the development of ID, autistic spectrum disorder (ASD), and seizure persistence. The analyzed variables were the following: gender, age at onset, age at study, genetic variant, fever sensitivity, seizure type, cluster occurrence, status epilepticus, EEG abnormalities, and cognitive and behavioral disorders. Receiver operating characteristic curve analysis was performed to evaluate the age at which seizures might decrease in frequency.

Results: At last follow-up (median = 12 years, range = 1.9-42.1 years), 48 patients (78.7%) had annual seizures/clusters, 13 patients (21.3%) had monthly to weekly seizures, and 12 patients (19.7%) were seizure-free for ≥2 years. Receiver operating characteristic analysis showed a significant decrease of seizure frequency after the age of 10.5 years (sensitivity = 81.0%, specificity = 70.0%). Thirty-six patients (59.0%) had ID and behavioral disturbances. ASD was present in 31 patients. An earlier age at epilepsy onset emerged as the only predictive factor for ID (P = 0.047) and ASD (P = 0.014). Conversely, age at onset was not a predictive factor for seizure outcome (P = 0.124).

Significance: We found that earlier age at epilepsy onset is related to a significant risk for ID and ASD. Furthermore, long-term follow-up showed that after the age of 10 years, seizures decrease in frequency and cognitive and behavioral disturbances remain the primary clinical problems.
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http://dx.doi.org/10.1111/epi.14600DOI Listing
December 2018

CHD2-epilepsy: Polygraphic documentation of self-induced seizures due to fixation-off sensitivity.

Seizure 2018 Apr 3;57:8-10. Epub 2018 Mar 3.

Neurophysiology Unit, Department of Neuroscience, Bambino Gesu' Children's Hospital, Rome, Italy. Electronic address:

CHD2 gene has been described in association with different types of childhood myoclonic epilepsy and is emerging as a gene involved in photosensitivity alone or combined with epilepsy. Recent studies suggest that CHD2 could be responsible for a proper phenotype characterized by infantile-onset generalized epilepsy, intellectual disability, and photosensitivity and in particular with self-induced seizures. We report the case of a child with CHD2 mutation and mild developmental impairment that since the age of 3 years started with myoclonic seizures apparently well responding to antiepileptic drugs and that subsequently developed intractable self-induced seizures. Through an accurate Video-EEG polygraphic analysis, we demonstrated that seizures are related to an abnormal increase of epileptiform activity after eye-closure or loss of fixation as observed in the Fixation-Off Sensitivity (FOS) phenomenon. In conclusion our study adds relevant features of the CHD2-epilepsy phenotype and confirms that CHD2 mutations produce a distinctive form of myoclonic epilepsy with visual-sensitive seizures.
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http://dx.doi.org/10.1016/j.seizure.2018.02.010DOI Listing
April 2018

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

Brain Dev 2018 May 1;40(5):433-438. Epub 2018 Feb 1.

Dept. of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

Background: Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease caused by mutations in ATP1A3 gene codifying for alpha3 subunit of Na-K ATPase pump. Repeated and transient attacks of hemiplegia, usually affecting one side of the body or the other, or both sides of the body at once, are the core features of AHC. Monocular nystagmus, other abnormalities in ocular movements, dystonic posturing and epilepsy are commonly associated to AHC. However, the spectrum of ATP1A3 related diseases is still expanding and new phenotypes have been reported.

Case Report: Here, we described a patient who developed a severe early onset drug-resistant epileptic encephalopathy and months later, he presented episodes of hemiplegic attacks and monocular nystagmus. Thus, AHC was hypothesized and a novel mutation in ATP1A3 gene was found. Interestingly, ketogenic diet (KD) was started and both epileptic seizures and classical AHC paroxysmal episodes stopped. Long-term follow-up shows a global improvement of neurological development.

Conclusions: Our case reinforces the role of KD as a novel therapeutic option for ATP1A3-related conditions. However, proper dedicated confirmatory trials on KD are necessary.
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http://dx.doi.org/10.1016/j.braindev.2018.01.002DOI Listing
May 2018

Cerebellar fits in the 2000s.

Brain Dev 2018 Jan 19;40(1):77-80. Epub 2017 Jul 19.

Neurophysiopathology Unit, Department of Neuroscience, Bambino Gesù Pediatric Hospital, Rome, Italy.

Acute compression on the brainstem or acute increase in intracranial pressure may induce non-epileptic events varying from tonic seizures to axial rigidity with motor automatism, sometimes clearly characterized by decerebrate or decorticate paroxysmal posturing. The EEG correlate is characterized by diffuse asynchronous slow waves of variable amplitude. The mechanism behind such events, known as "cerebellar seizures or fits", is linked to cerebellar herniation and brainstem compression and is not of cortical origin. Misrecognition of such entity may entail an incongruous therapeutic intervention in a life-threatening situation. We describe two emblematic paediatric cases of cerebellar fits caused by diffuse oedema and brainstem compression: a 10-year-old girl with acute disseminated encephalomyelitis (ADEM) and a 2-year-old girl with severe respiratory distress symptomatic of Fallot tetralogy. We also describe the EEG correlate recorded during the events.
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http://dx.doi.org/10.1016/j.braindev.2017.06.011DOI Listing
January 2018

Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study.

Epilepsia 2016 11 20;57(11):1808-1816. Epub 2016 Oct 20.

Pediatric Neurology Unit, V. Buzzi Hospital, A.O. ICP, Milan, Italy.

Objective: To describe the clinical, neuropsychological, and psychopathologic features of a cohort of children with a new diagnosis of symptomatic or presumed symptomatic focal epilepsy at time of recruitment and through the first month. The selected population will be followed for 2-5 years after enrollment to investigate the epilepsy course and identify early predictors of drug resistance.

Methods: In this observational, multicenter, nationwide study, children (age 1 month-12.9 years) with a new diagnosis of symptomatic or presumed symptomatic focal epilepsy were consecutively enrolled in 15 Italian tertiary childhood epilepsy centers. Inclusion criteria were as follows: (1) diagnosis of symptomatic focal epilepsy due to acquired and developmental etiologies, and presumed symptomatic focal epilepsy; (2) age at diagnosis older than 1 month and <13 years; and (3) written informed consent. Children were subdivided into three groups: ≤3 years, >3 to 6 years, and >6 years. Clinical, electroencephalography (EEG), neuroimaging, and neuropsychological variables were identified for statistical analyses.

Results: Two hundred fifty-nine children were enrolled (116 female and 143 male). Median age: 4.4 years (range 1 month-12.9 years); 46.0% (n = 119) of children were younger than 3 years, 24% (61) from 3 to 6 years of age, and 30% (79) older than 6 years. Neurologic examination findings were normal in 71.8%. Brain magnetic resonance imaging (MRI) was abnormal in 59.9%. Children age ≤3 years experienced the highest seizure frequency in the first month after recruitment (p < 0.0001). Monotherapy in the first month was used in 67.2%. Cognitive tests at baseline revealed abnormal scores in 30%; behavioral problems were present in 21%. At multivariate analysis, higher chances to exhibit more than five seizures in the first month after epilepsy onset was confirmed for younger children and those with temporal lobe epilepsy.

Significance: In this prospective cohort study, an extensive characterization of epilepsy onset in children with symptomatic or presumed symptomatic focal epilepsies is reported in relation to the age group and the localization of the epileptogenic zone.
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http://dx.doi.org/10.1111/epi.13574DOI Listing
November 2016

Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01).

BMJ Open 2016 06 15;6(6):e011565. Epub 2016 Jun 15.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Introduction: Status epilepticus (SE) is a life-threatening neurological emergency. SE lasting longer than 120 min and not responding to first-line and second-line antiepileptic drugs is defined as 'refractory' (RCSE) and requires intensive care unit treatment. There is currently neither evidence nor consensus to guide either the optimal choice of therapy or treatment goals for RCSE, which is generally treated with coma induction using conventional anaesthetics (high dose midazolam, thiopental and/or propofol). Increasing evidence indicates that ketamine (KE), a strong N-methyl-d-aspartate glutamate receptor antagonist, may be effective in treating RCSE. We hypothesised that intravenous KE is more efficacious and safer than conventional anaesthetics in treating RCSE.

Methods And Analysis: A multicentre, randomised, controlled, open-label, non-profit, sequentially designed study will be conducted to assess the efficacy of KE compared with conventional anaesthetics in the treatment of RCSE in children. 10 Italian centres/hospitals are involved in enrolling 57 patients aged 1 month to 18 years with RCSE. Primary outcome is the resolution of SE up to 24 hours after withdrawal of therapy and is updated for each patient treated according to the sequential method.

Ethics And Dissemination: The study received ethical approval from the Tuscan Paediatric Ethics Committee (12/2015). The results of this study will be published in peer-reviewed journals and presented at international conferences.

Trial Registration Number: NCT02431663; Pre-results.
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http://dx.doi.org/10.1136/bmjopen-2016-011565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4916612PMC
June 2016

PCDH19-related epilepsy in two mosaic male patients.

Epilepsia 2016 Mar 14;57(3):e51-5. Epub 2016 Jan 14.

Department of Neurosciences, Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

PCDH19 gene mutations have been recently associated with an epileptic syndrome characterized by focal and generalized seizures. The PCDH19 gene (Xq22.1) has an unusual X-linked inheritance with a selective involvement for female subjects. A cellular interference mechanism has been hypothesized and male patients can manifest epilepsy only in the case of a mosaicism. So far about 100 female patients, and only one symptomatic male have been described. Using targeted next generation sequencing (NGS) approach we found a PCDH19 point mutation in two male patients with a clinical picture suggestive of PCDH19-related epilepsy. The system allowed us to verify that the two c.1352 C>T; p.(Pro451Leu) and c.918C>G; p.(Tyr306*) variants occurred in mosaic status. Mutations were confirmed by Sanger sequencing and quantified by real-time polymerase chain reaction (PCR). Up to now, the traditional molecular screening for PCDH19-related epilepsy has been targeted to all females with early onset epilepsy with or without cognitive impairment. Male patients were generally excluded. We describe for the first time two mosaic PCDH19 point mutations in two male patients with a clinical picture suggestive of PCDH19-related epilepsy. This finding opens new opportunities for the molecular diagnoses in patients with a peculiar type of epilepsy that remains undiagnosed in male patients.
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http://dx.doi.org/10.1111/epi.13295DOI Listing
March 2016

Focal seizures versus epileptic spasms in children with focal cortical dysplasia and epilepsy onset in the first year.

Epilepsy Res 2015 Jan 26;109:203-9. Epub 2014 Nov 26.

Ospedale Pediatrico Bambino Gesù, P.zza S. Onofrio 4, 00165 Rome, Italy.

Purpose: Focal cortical dysplasia (FCD) has been recognized as one of the most frequent causes of drug resistant epilepsy, especially in children. In infancy, onset of FCD-related epilepsy is substantially characterized by epileptic spasms (ES) or focal seizures. Which elements pertaining to the FCD are responsible for the onset of one type of seizure over the other is still unclear. Purpose of our study was to compare the characteristics of FCDs in terms of lateralization and site in patients with epileptic spasms versus patients with focal seizures.

Methods: We retrospectively reviewed data from 41 patients with FCD related epilepsy with onset during the first 14 months of life. Seizure semeiology and drug resistance were analyzed, as were age at onset and FCD site and lateralization.

Results: Twenty-one children had focal seizures, 11 had ES and nine had focal seizures followed by ES. Mean age at onset was respectively 8.2, 5.1 and 1.8 months. Drug resistance was present in respectively 38.5%, 34.6% and 26.9% of children. Among patients with only ES, 90.9% had an exclusively frontal FCD localization, versus 42.9% of patients with focal seizures and 11.1% of patients with focal seizures followed by ES. FCD lateralization was right sided respectively in 47.6%, 81.8% and 66.7% of patients.

Conclusions: Frontal lobe localization of FCDs was closely associated with ES (p=0.001). Moreover we also found that patients with focal seizures followed by ES had a significantly earlier age at onset compared to patients with focal seizures only (p<0.001). The association between ES and right-sided FCD lateralization, even if numerically suggestive, did not reach statistical significance (p=0.16). There was no significant association between seizure type and drug resistance (p=0.08).
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http://dx.doi.org/10.1016/j.eplepsyres.2014.11.006DOI Listing
January 2015

Acute intralesional recording in hypothalamic hamartoma: description of 4 cases.

Acta Neurol Belg 2015 Sep 10;115(3):233-9. Epub 2014 Oct 10.

Division of Neurology, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, P.za S. Onofrio, 4 00165, Rome, Italy,

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.
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http://dx.doi.org/10.1007/s13760-014-0374-zDOI Listing
September 2015

Hemispherotomy in Rasmussen encephalitis: long-term outcome in an Italian series of 16 patients.

Epilepsy Res 2014 Aug 8;108(6):1106-19. Epub 2014 Apr 8.

Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy.

Surgical disconnection of the affected hemisphere is considered the treatment of choice for Rasmussen encephalitis (RE), however few data on long-term outcomes after disconnective surgery are available. We report on long-term seizure, cognitive and motor outcomes after disconnective surgery in 16 (8 M, 8 F) RE patients. Pre- and post-operative evaluations included long-term video-EEG monitoring, MRI, assessment of motor function, and cognitive evaluation. Hemispherotomy, by various techniques was used to obtain functional disconnection of the affected hemisphere. The patients, of median current age 23.5 years, range 12-33, were operated on between 1993 and 2009. Median age at disease onset was 5.8 years (range 3-11.4). Median time from seizure onset to surgery was 3.8 years, range 8 months to 21 years. Post-surgical follow-up was a median of 9.5 years, range 3-20. At surgery all patients were receiving two or more antiepileptic drugs (AEDs). All but three patients were seizure-free at latest follow-up. AEDs had been stopped in ten patients; in the remaining six AEDs were markedly reduced. Postural control improved in all patients. Gain in cognitive functioning was significantly (p=0.002) related to disease duration. The long-term outcomes, in terms of seizure control, motor improvement, and cognitive improvement provide important support for disconnective surgery as first choice treatment for RE.
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http://dx.doi.org/10.1016/j.eplepsyres.2014.03.018DOI Listing
August 2014

Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.

Pediatr Neurol 2014 May 11;50(5):530-5. Epub 2014 Jan 11.

Division of Neurology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy. Electronic address:

Background: Dup(14q12) harboring FOXG1 has been recently reported in individuals with developmental delay of variable severity, delayed/absent speech, and epilepsy/infantile spasms. FOXG1 was described as a dosage-sensitive gene encoding G1, a forkhead protein that is a brain-specific transcription factor with a role in brain development.

Patients: We extensively reviewed all published cases with dup(14) harboring FOXG1 and highlighted those epileptological features that are more commonly found among such cases. We also describe one new patient, detailing his peculiar clinical and neurophysiological findings.

Results: To date, 15 patients with dup(14) including FOXG1 have been reported; within those patients, nine also presented with epilepsy. At onset, the more frequent seizure type in the report and also in our patient is the epileptic spasm. Focal seizures might also be present. Outcomes in patients with epilepsy associated with dup(14) should be considered separately regarding seizures and cognitive and motor development. In the majority of patients (seven of 10, including ours), seizures tend to disappear and motor skills improve; however, instead stagnation of cognitive development is evident in all of them, associated with severe speech difficulties.

Conclusions: There are some common features that should be considered: seizures with onset during the first year of life, particularly clusters of spasms and focal seizures with hypsarrhythmic electroencephalograph pattern; different degrees of cognitive impairment possibly associated with behavior disturbances and severe speech disabilities; and dysmorphic features in the absence of significant microcephaly.
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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.022DOI Listing
May 2014

Occipital seizures induced by intermittent photic stimulation in Dravet syndrome.

Seizure 2014 Apr 5;23(4):309-13. Epub 2014 Jan 5.

Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Purpose: 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).

Method: 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.

Results: 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 10 Hz. 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.

Conclusion: 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.
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http://dx.doi.org/10.1016/j.seizure.2013.12.009DOI Listing
April 2014

Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia.

Eur J Paediatr Neurol 2014 May 10;18(3):416-9. Epub 2013 Dec 10.

Neurology Unit, Bambino Gesù Children's Hospital, Rome, Italy.

Hemiconvulsion-Hemiplegia (HH) syndrome represents an uncommon consequence of prolonged unilateral clonic or hemiconvulsive status epilepticus in childhood, usually occurring during a febrile illness, followed by ipsilateral hemiplegia. The subsequent appearance of focal seizures configures the so called Hemiconvulsion-Hemiplegia-Epilepsy (HHE) syndrome. The pathogenesis of HH/HHE syndrome is still unclear. We describe the case of a 4 year-old girl with congenital adrenal hyperplasia (CAH) whom developed HH/HHE syndrome with drug resistant seizures at the age of 21 months and underwent left cerebral hemispherotomy at the age of 3 years and 6 months. Histopathological findings showed the presence of an underlying inflammatory-degenerative process. Disregulation of the inflammatory cascade has been proposed as one of the possible pathogenetic mechanisms underlying HH/HHE syndrome. To our knowledge however, this is the first report of an association with a histologically documented inflammatory process. The clinical and histopathological findings of our reported case lend support to the possible role of inflammation in the pathogenesis of HH/HHE syndrome.
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http://dx.doi.org/10.1016/j.ejpn.2013.11.001DOI Listing
May 2014

Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data.

Epileptic Disord 2013 Jun;15(2):158-65

Neurology Division, Ospedale Pediatrico Bambino Gesù, Rome.

We describe the EEG findings of an infant with early-onset epileptic encephalopathy with mutation of the KCNQ2 gene and a family history of neonatal seizures. The infant presented with multifocal drug-resistant seizures with onset during the third day of life. Family history was positive for early-onset neonatal seizures. Metabolic screening and neuroimaging were negative. Direct sequencing of KCQN2 from both the mother and child revealed a heterozygous cytosine-to-guanine mutation (Dedek et al., 2003). Interictal EEG showed a very discontinuous pattern which evolved towards a defined burst-suppression pattern during sleep and a multifocal, random, attenuation pattern during wakefulness. Focal, tonic seizures with head deviation, sometimes followed by asynchronous and asymmetrical clonic jerks, eyelid myoclonias, and polypnoea, were recorded. Ictal EEG was characterised by focal, low-voltage, fast activity, followed by recruiting theta rhythms and bilateral, focal, spike-wave complexes, alternatively localised to one hemisphere and subsequently diffusing to the other. ACTH therapy was introduced, resulting in a significant improvement in EEG activity and gradual reduction in seizure frequency, with cessation at age 13 weeks. [Published with video sequences].
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http://dx.doi.org/10.1684/epd.2013.0578DOI Listing
June 2013

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

Epilepsia 2013 Mar 29;54(3):425-36. Epub 2013 Jan 29.

Laboratory of Neurogenetics, Department of Neuroscience, Istituto G. Gaslini, Genova, Italy.

Purpose: To dissect the genetics of benign familial epilepsies of the first year of life and to assess the extent of the genetic overlap between benign familial neonatal seizures (BFNS), benign familial neonatal-infantile seizures (BFNIS), and benign familial infantile seizures (BFIS).

Methods: Families with at least two first-degree relatives affected by focal seizures starting within the first year of life and normal development before seizure onset were included. Families were classified as BFNS when all family members experienced neonatal seizures, BFNIS when the onset of seizures in family members was between 1 and 4 months of age or showed both neonatal and infantile seizures, and BFIS when the onset of seizures was after 4 months of age in all family members. SCN2A, KCNQ2, KCNQ3, PPRT2 point mutations were analyzed by direct sequencing of amplified genomic DNA. Genomic deletions involving KCNQ2 and KCNQ3 were analyzed by multiple-dependent probe amplification method.

Key Findings: A total of 46 families including 165 affected members were collected. Eight families were classified as BFNS, 9 as BFNIS, and 29 as BFIS. Genetic analysis led to the identification of 41 mutations, 14 affecting KCNQ2, 1 affecting KCNQ3, 5 affecting SCN2A, and 21 affecting PRRT2. The detection rate of mutations in the entire cohort was 89%. In BFNS, mutations specifically involve KCNQ2. In BFNIS two genes are involved (KCNQ2, six families; SCN2A, two families). BFIS families are the most genetically heterogeneous, with all four genes involved, although about 70% of them carry a PRRT2 mutation.

Significance: Our data highlight the important role of KCNQ2 in the entire spectrum of disorders, although progressively decreasing as the age of onset advances. The occurrence of afebrile seizures during follow-up is associated with KCNQ2 mutations and may represent a predictive factor. In addition, we showed that KCNQ3 mutations might be also involved in families with infantile seizures. Taken together our data indicate an important role of K-channel genes beyond the typical neonatal epilepsies. The identification of a novel SCN2A mutation in a family with infantile seizures with onset between 6 and 8 months provides further confirmation that this gene is not specifically associated with BFNIS and is also involved in families with a delayed age of onset. Our data indicate that PRRT2 mutations are clustered in families with BFIS. Paroxysmal kinesigenic dyskinesia emerges as a distinctive feature of PRRT2 families, although uncommon in our series. We showed that the age of onset of seizures is significantly correlated with underlying genetics, as about 90% of the typical BFNS families are linked to KCNQ2 compared to only 3% of the BFIS families, for which PRRT2 represents the major gene.
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http://dx.doi.org/10.1111/epi.12089DOI Listing
March 2013

Epilepsy in ring 14 chromosome syndrome.

Epilepsy Behav 2012 Dec 14;25(4):585-92. Epub 2012 Nov 14.

Neurology Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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.
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http://dx.doi.org/10.1016/j.yebeh.2012.09.032DOI Listing
December 2012

PRRT2 is mutated in familial and non-familial benign infantile seizures.

Eur J Paediatr Neurol 2013 Jan 17;17(1):77-81. Epub 2012 Aug 17.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, P.zza S. Onofrio 4, 00165 Rome, Italy.

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.
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http://dx.doi.org/10.1016/j.ejpn.2012.07.006DOI Listing
January 2013

Rufinamide efficacy and safety as adjunctive treatment in children with focal drug resistant epilepsy: the first Italian prospective study.

Epilepsy Res 2012 Nov 5;102(1-2):94-9. Epub 2012 Jun 5.

Pediatric Neurology Unit, Neuroscience Department, "Tor Vergata" University Hospital of Rome, Viale Oxford 81, 00133 Rome, Italy.

Rufinamide is a new antiepileptic drug approved as add-on treatment in Lennox-Gastaut syndrome from the age of 4 years, and for the treatment of focal seizures in adults and adolescents. The aim of this prospective study was to evaluate the safety and efficacy of add-on Rufinamide in the treatment of childhood focal drug resistant epilepsy. We recruited 70 patients for a prospective, add-on, open-label study. Inclusion criteria were: 3 years of age or more; focal drug resistant epilepsy despite the use of three previous AEDs; use of at least one other AED, but no more than three at baseline; more than one seizure per month in the previous 6 months. Rufinamide efficacy was observed up to 12 months of follow-up, with a total responder rate of 38.57%. We found the best results in focal epilepsies due to structural/metabolic etiology (42.6%). The responder rate was similar for focal seizures with secondary generalization, simple focal seizures other than myoclonic jerks, and complex partial seizures. Response to Rufinamide was not related to the age. Our experience suggests that Rufinamide can be effective in reducing focal seizure frequency in children with drug resistant epilepsy, and that it can be considered as a safe drug.
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http://dx.doi.org/10.1016/j.eplepsyres.2012.05.004DOI Listing
November 2012

Neonatal hemifacial spasm and fourth ventricle mass.

Dev Med Child Neurol 2012 Aug 30;54(8):697-703. Epub 2012 Apr 30.

Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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.
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http://dx.doi.org/10.1111/j.1469-8749.2012.04247.xDOI Listing
August 2012

Electroencephalographic features in dravet syndrome: five-year follow-up study in 22 patients.

J Child Neurol 2012 Apr 21;27(4):439-44. Epub 2011 Oct 21.

Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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.
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http://dx.doi.org/10.1177/0883073811419262DOI Listing
April 2012