Publications by authors named "Carlotta Canavese"

16 Publications

  • Page 1 of 1

A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factors.

Eur J Paediatr Neurol 2021 Nov 6;36:1-6. Epub 2021 Nov 6.

Pediatric Rheumatology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, Pisa, Italy.

Objectives: Sydenham's Chorea (SC) is a neuropsychiatric disorder and a major manifestation of acute rheumatic fever. The erroneous assumption that SC is a benign and self-limiting disease, has led to a lack of high-quality scientific evidence of the therapeutical and prognostic features of SC.

Study Design: We retrospectively analyzed the medical records of patients <18-years old with SC in 17 Italian pediatric centers. Recorded data included clinical, instrumental and laboratory parameters. Prognostic risk factors including treatment regimens were assessed with univariate and multivariate sub-analysis.

Results: We included 171 patients with SC. 66% had generalized chorea, and 34% hemichorea. 81% had carditis (subclinical in 65%). Additional neurological symptoms were reported in 60% of the patients, mainly dysarthria and dysgraphia. 51% had neuropsychiatric symptoms at onset, which persisted after 12 months in 10%. Among psychiatric manifestations, the most common was anxiety disorder/depression (77%). Neurological remission was reached by 93% of the patients at 6 months; 9% relapsed. Patients were treated as follows: 11% penicillin alone, 37% immunomodulatory therapy, 16% symptomatic drugs (i.e. anti-seizure medication, dopamine antagonists) and 37% both symptomatic and immunomodulatory treatment. Neurological outcome did not differ between groups. Patients receiving symptomatic drugs had a higher risk of relapse on multivariate analysis (p = 0.045).

Conclusions: Treatment of SC was largely heterogeneous. Based on our results, immunomodulatory therapy did not show higher efficacy at medium term, although it was associated to a slightly lower risk of relapse compared to symptomatic therapy. Longitudinal studies are needed to assess specific risk factors and best treatment options.
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http://dx.doi.org/10.1016/j.ejpn.2021.11.002DOI Listing
November 2021

Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.

Neurogenetics 2021 Oct 5. Epub 2021 Oct 5.

Neurology IV Unit, Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.

Familial periodic paralyses (PPs) are inherited disorders of skeletal muscle characterized by recurrent episodes of flaccid muscle weakness. PPs are classified as hypokalemic (HypoPP), normokalemic (NormoPP), or hyperkalemic (HyperPP) according to the potassium level during the paralytic attacks. HypoPP is an autosomal dominant disease caused by mutations in the CACNA1S gene, encoding for Cav1.1 channel (HypoPP-1), or SCN4A gene, encoding for Nav1.4 channel (HypoPP-2). In the present study, we included 60 patients with a clinical diagnosis of HypoPP. Fifty-one (85%) patients were tested using the direct sequencing (Sanger method) of all reported HypoPP mutations in CACNA1S and SCN4A genes; the remaining 9 (15%) patients were analyzed through a next-generation sequencing (NGS) panel, including the whole CACNA1S and SCN4A genes, plus other genes rarely associated to PPs. Fifty patients resulted mutated: 38 (76%) cases showed p.R528H and p.R1239G/H CACNA1S mutations and 12 (24%) displayed p.R669H, p.R672C/H, p.R1132G/Q, and p.R1135H SCN4A mutations. Forty-one mutated cases were identified among the 51 patients managed with Sanger sequencing, while all the 9 cases directly analyzed with the NGS panel showed mutations in the hotspot regions of SCN4A and CACNA1S. Ten out of the 51 patients unresolved through the Sanger sequencing were further analyzed with the NGS panel, without the detection of any mutation. Hence, our data suggest that in HypoPP patients, the extension of genetic analysis from the hotspot regions using the Sanger method to the NGS sequencing of the entire CACNA1S and SCN4A genes does not lead to the identification of new pathological mutations.
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http://dx.doi.org/10.1007/s10048-021-00673-2DOI Listing
October 2021

Transient blindness associated with mild encephalitis/encephalopathy with a reversible splenial lesion (MERS): a case report and review of literature.

Ital J Pediatr 2020 Oct 12;46(1):152. Epub 2020 Oct 12.

Department of Pediatrics, Infectious Diseases Unit, University of Turin, Regina Margherita Children's Hospital, Turin, Italy.

Background: Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinical-radiological syndrome that can be related to infectious and non-infectious conditions. The most prominent neurological symptoms are disturbance of consciousness, abnormal speech, delirious behavior, seizures, muscle weakness, ophthalmoplegia, facial nerve paralysis and headache. Here we report the case of a child with MERS presenting with the unusual symptom of bilateral transient blindness.

Case Presentation: A 4-year-old female patient, with a history of fever, abdominal pain, loss of appetite and cough lasted for a few days, experienced 3 episodes of transient bilateral loss of vision with difficulty in walking. Her physical examination showed absence of focal neurological and meningeal irritation signs, although responsiveness was slightly impaired. The ophthalmologic evaluation, including a fundus oculi examination, was negative. The electroencephalogram showed slow activity in the temporo-occipital regions, more evident in the right hemisphere. A lumbar puncture was performed and cerebrospinal fluid analysis revealed normal glycorrhachia, cell counts, protein levels and IgG index. Magnetic resonance imaging of the brain showed a signal alteration in the splenium of the corpus callosum, without contrast enhancement. This finding was suggestive of a reversible cytotoxic lesion. Empiric antiviral treatment with acyclovir and intravenous dexamethasone was initiated. Polymerase chain reaction search for neurotropic viral nucleic acid sequences in the cerebrospinal fluid was negative, while a low number of HHV-6 DNA copies was detected in the blood. Electroencephalograms were repeated in the following days, showing a progressive normalization of the pattern. The child was discharged without symptoms after 10 days of treatment with oral corticosteroids. After 40 days, brain magnetic resonance imaging showed a complete normalization of the signal alteration in the splenium of the corpus callosum.

Conclusion: Transient blindness was reported as an initial symptom of MERS in a few children. To date, there is no evidence of effective treatment methods. Nonetheless, MERS diagnosis provides pediatricians with valuable prognostic information in order to reassure patients and their families about the good outcome of this disease.
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http://dx.doi.org/10.1186/s13052-020-00918-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552542PMC
October 2020

Manual push technique, an alternative route of subcutaneous immunoglobulin administration in chronic inflammatory demyelinating polyradiculoneuropathy: A proof-of-concept study.

Clin Neurol Neurosurg 2020 11 16;198:106240. Epub 2020 Sep 16.

Divisione di Riabilitazione Neuromotoria, Istituti Clinici Scientifici Maugeri, Presidio Sanitario Major, Via Santa Giulia, 60, 10124, Torino, Italy. Electronic address:

Objective: Subcutaneous immunoglobulin (SCIg) administered through infusion pump has been reported as effective in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients. In this study we evaluate an alternative technique of SCIg administration, based on the delivery of lower volumes administered daily using manual push technique (MPT) in 10 CIDP patients.

Methods: In this randomized, controlled, two-arm, crossover clinical trial, CIDP patients were randomly assigned 1:1 to receive SCIg either by MPT or pumps for 4 consecutive months with crossover to the other. The primary objective was to assess whether MPT had the same effectiveness as pumps. The secondary objectives were to assess whether MPT resulted in greater plasma IgG levels and improved quality of life (QoL).

Results: Ten patients (mean age = 48.3) were enrolled. No significant changes were observed in the efficacy parameters (INCAT, MRC, R-ODS, and GS scales). A positive mean variation of 5.4 % in plasma IgG levels in the group treated with MPT was observed at the end of MPT periods. Treatment interference, which is one of the dimensions of the Life Quality Index, showed a significant improvement in the MPT periods.

Conclusion: In CIDP patients, the MPT technique was as effective as pump infusion, allowed comparable, slightly increases plasma IgG levels, and also improved the QoL.
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http://dx.doi.org/10.1016/j.clineuro.2020.106240DOI Listing
November 2020

Anticonvulsants for Psychiatric Disorders in Children and Adolescents: A Systematic Review of Their Efficacy.

Front Psychiatry 2018 22;9:270. Epub 2018 Jun 22.

Division of Child and Adolescent Neuropsychiatry, Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy.

Anticonvulsant medications are frequently used in clinical practice to treat psychiatric disorders in children and adolescents, but the evidence for their efficacy is uncertain. We conducted a systematic review of published randomized controlled trials (RCT) that assessed the psychiatric benefit of anticonvulsants in patients under 18 years of age. The Medline, Scopus, Web of Science, and ClinicalTrials.gov databases were systematically searched for peer-reviewed primary publications of RCTs with a minimum of 10 patients per treatment arm through December 2017. Out of 355 identified non-duplicative publications, 24 met the inclusion criteria. Most RCTs were to treat bipolar disorder ( = 12) or manage recurrent aggression ( = 9). Few ( = 3) had both a multisite design and adequate statistical power. Valproate was the most frequently studied anticonvulsant ( = 15). Out of three placebo-controlled RCTs of valproate in bipolar disorder, none showed efficacy. In four RCTs, valproate was inferior to the antipsychotic risperidone. In several small, single-site RCTs, valproate and sulthiame were better than placebo for the management of recurrent aggression. Currently available RCTs do not support the efficacy of anticonvulsants as mood stabilizers in children. There is some preliminary evidence from small RCTs of the efficacy of some anticonvulsants in the control of aggression and behavioral dyscontrol in conduct disorder, autism, and intellectual disability.
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http://dx.doi.org/10.3389/fpsyt.2018.00270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6024111PMC
June 2018

Use of Linezolid in a Child With Tuberculous Meningitis.

Pediatr Infect Dis J 2018 05;37(5):499

Department of Pediatrics, Infectious Diseases Unit, Regina Margherita Children's Hospital, University of Turin, Italy Child and Adolescent Neurology and Psychiatry Division, Regina Margherita Children's Hospital, University of Turin, Italy Department of Pediatric Neurosurgery, Regina Margherita Children's Hospital, University of Turin, Italy Department of Pediatrics, Infectious Diseases Unit, Regina Margherita Children's Hospital, University of Turin, Italy.

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http://dx.doi.org/10.1097/INF.0000000000001801DOI Listing
May 2018

Acute Hemichorea Can Be the Only Clinical Manifestation of Post-Varicella Vasculopathy: Two Pediatric Clinical Cases.

Front Neurol 2018 20;9:164. Epub 2018 Mar 20.

Division of Child and Adolescent Neuropsychiatry, University of Turin, Turin, Italy.

Acute hemichorea can occur in the context of infectious, autoimmune, metabolic, toxic, and vascular neuropathologies. Primary infection by varicella zoster virus (VZV) can result in vasculopathy with neurological manifestations, such as hemiparesis, at times accompanied by hemichorea. Isolated hemichorea, however, had not been reported. We here describe two cases of VZV-induced vasculopathy whose sole clinical manifestation was acute hemichorea. Both cases involved young boys of 3 years of age, who presented with acute hemichorea 4-6 months after initial VZV infection. All hematological, immunological, and toxicological tests were normal, except for the presence of VZV IgG. Brain structural magnetic resonance imaging (MRI) and magnetic resonance angiography revealed specific signs of vasculitis and ischemic lesions in the basal ganglia region (lentiform nucleus, thalamus, and internal capsule). Following corticosteroid and acetylsalicylic acid treatment, full symptomatic recovery was achieved within 3 weeks. Repeated MRI documented full neurostructural recovery, which was confirmed at extended follow-up for more than 1 year. These cases indicate that VZV-induced vasculopathy should be considered in the case of pediatric isolated acute hemichorea.
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http://dx.doi.org/10.3389/fneur.2018.00164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869195PMC
March 2018

P068. A suggestive case of hemiplegic migraine: a diagnostic challenge.

J Headache Pain 2015 Dec;16(Suppl 1):A82

Centro Cefalee dell'età evolutiva, S.C. Pediatria d'Urgenza, Ospedale Infantile Regina Margherita, AOU Città della Salute e della Scienza, Turin, Italy.

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http://dx.doi.org/10.1186/1129-2377-16-S1-A82DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715202PMC
December 2015

Transient Idiopathic Dystonia in Infancy: A Clinical Case and Video Description.

Mov Disord Clin Pract 2016 May-Jun;3(3):318-319. Epub 2016 Jan 18.

Department of Pediatric Neurology Children Hospital Regina Margherita University of Turin Turin Italy.

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http://dx.doi.org/10.1002/mdc3.12293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353361PMC
January 2016

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction.

Eur J Paediatr Neurol 2015 Jan 18;19(1):64-8. Epub 2014 Oct 18.

Neuropediatrics Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. Electronic address:

Introduction: Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare movement disorder characterized by sudden attacks of involuntary movements. Familial PNKD is an autosomal dominant trait, caused by mutations in the myofibrillogenesis regulator 1 (MR-1) gene on chromosome 2q35. Three different mutations have been described; all of them reside in the N-terminal region common to isoforms L and S, that has been suggested to code for a mitochondrial targeting sequence, necessary for the correct sub-cellular localization of the protein into mitochondria.

Methods: We report on four patients of the same family, affected by PNKD. Skin fibroblasts were used to analysed oxygen consumption and to measure mitochondrial matrix calcium response after agonist stimulation. Mitotracker-based visualization was also used to assess fragmentation of the mitochondrial network.

Results: the paroxysmal movements were dystonic in two patients and dystonic/choreiform in the other ones; in three cases the symptoms started in one limb and then generalized, while in one case remained focal. Three had a very early onset, within the first two years of life. The frequency of episodes showed a great variability, ranging from 2 times a day to 3 times a year, while the duration of the attacks ranged from 2 min to 1,5 h, always with sudden onset and end and complete recover in between. All affected subjects harbored a heterozygous C to T substitution in MR-1, causing an Ala9Val amino acid change in the N-terminal region. A significant reduction of oxygen consumption and altered calcium homeostasis were found in mutant fibroblasts compared to controls, while no difference was detected in mitochondrial network.

Conclusions: The data on reduced oxygen consumption and altered calcium homeostasis obtained on mutant fibroblasts are the first evidences, in physiological conditions, of a mitochondrial dysfunction in PNKD.
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http://dx.doi.org/10.1016/j.ejpn.2014.10.003DOI Listing
January 2015

Status dystonicus: predictors of outcome and progression patterns of underlying disease.

Mov Disord 2012 May 6;27(6):783-8. Epub 2012 Apr 6.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy.

Background: Status dystonicus (SD) is a rare, life-threatening disorder characterized by acute worsening of generalized dystonia.

Methods: This study was conducted to characterize the pathogenesis, clinical course, and prognosis of SD. We reviewed the records of six centers and analyzed them together with all the cases previously reported in the literature.

Results: Eighty-nine episodes occurring in 68 patients were studied. The majority of patients were males (64.7%), were <15 years of age (58.8%), and had secondary dystonia as the underlying condition (37.8%). The episodes were mainly characterized by tonic muscle spasms (68.5%), with phasic forms more common in secondary forms and among females. Almost all cases needed a multistaged approach, with surgery being the most successful strategy. Neurological conditions preceding the episode worsened in 16.2% of cases (ending in death in 10.3%).

Conclusions: The course and outcome of SD is highly variable; male gender and prevalent tonic phenotype predict a poor outcome.
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http://dx.doi.org/10.1002/mds.24981DOI Listing
May 2012

Phenomenology of psychogenic movement disorders in children.

Mov Disord 2012 Aug 7;27(9):1153-7. Epub 2012 Mar 7.

U.O. Neuropsichiatria Infantile Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italia.

Psychogenic movement disorders are heterogeneous and diagnostically challenging. Despite the growing literature on adult forms, clinical features in children have received relatively little attention. We retrospectively reviewed medical records and video of patients <18 years diagnosed with a psychogenic movement disorder at our institute between 2007 and 2010. We identified 14 patients (6 males and 8 females) with a mean onset age of 11.5 years. Levels of diagnostic confidence were documented (2 patients), clinically established (8 patients), and probable (4 patients). A single movement disorder was present in 10 patients (71%); 4 patients (29%) presented an association of two or more movement disorders. Eleven patients presented other medically unexplained symptoms associated with their movement disorders. Five patients, among 6 with chronic occurrence, performed a polymyographic study showing significant modifications of frequency, amplitude, and distribution of electromyographic activity, related to distracting maneuvers. The present series represents 5% of all movement disorders observed in the considered period and 32% of nonorganic neurological manifestations. The most frequent movement disorders were tremor (36%) and dystonia (29%). We describe two phenotypes not previously reported among psychogenic movement disorders: myoclonus and association of myoclonus with dystonia. We remark on the presence of psychogenic symptoms associated with movement disorders (79%) as being one of the most useful clinical clues as well as on the value of polymyographic study in chronic psychogenic movement disorders, which provide evidence of the inconsistency of movement disorders.
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http://dx.doi.org/10.1002/mds.24947DOI Listing
August 2012

Paroxysmal non-epileptic motor events in childhood: a clinical and video-EEG-polymyographic study.

Dev Med Child Neurol 2012 Apr 28;54(4):334-8. Epub 2012 Jan 28.

UO Neuropsichiatria Infantile Fondazione, IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Aim: The aim of this article was to describe the phenomenology and polymyographic features of paroxysmal non-epileptic motor events (PNMEs) observed in a series of typically developing and children with neurological impairment.

Method: We conducted a retrospective evaluation of 63 individuals (29 females; 34 males) affected by PNMEs at the National Neurological Institute 'C. Besta' between 2006 and 2008. Individuals were included in the study if they had PNMEs documented by a video-electroencephalography-polymyographic study and were aged between 1 month and 18 years (mean age at the time of video-electroencephalography-polymyography: 5y 10mo).

Results: In 45 of the 63 participants (71%), PNMEs were associated with other neurological conditions (secondary) including epilepsy, whereas in 18 participants PNME was the only neurological symptom (primary). Clinical features allowed classification of the motor disturbance into usual movement disorder categories in 31 individuals (49%); in the remaining 32 (51%), the movement disorder was characterized on the basis of polymyographic pattern of 'jerks' or 'sustained contraction'. The most frequent PNMEs were paroxysmal dyskinesias, followed by startle, stereotypies, shuddering, sleep myoclonus, psychogenic movement disorders, and benign myoclonus of early infancy; the last syndrome was also observed in children with neurological impairment. In eight participants, PNMEs remained unclassified.

Interpretation: PNMEs may occur in both healthy and children with neurological impairment and are caused by a wide range of static and progressive conditions. In the majority of children with neurological impairment with associated epilepsy, the PNMEs do not fit into the usual movement disorders categories. A video-electroencephalography-polymyography is therefore useful for characterizing them.
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http://dx.doi.org/10.1111/j.1469-8749.2011.04217.xDOI Listing
April 2012

Diagnostic issues in childhood and adult dystonia.

Expert Opin Med Diagn 2011 Nov;5(6):483-500

Neurologia I, Fondazione Istituto Neurologico Carlo Besta , Via Celoria, 11, 20133 Milano , Italy +02 2394 2552 ; +02 2394 2539 ;

Introduction: There is a general agreement among movement disorder specialists that the recognition of dystonia may be underestimated. In parallel, the growing interest and the improving knowledge of genetic and physiopathological aspects of dystonias require systematization.

Areas Covered: This review focuses on the phenomenology and etiology of pediatric and adult dystonias. It is designed to provide practical help for neurologists and neuropediatricians to make appropriate diagnoses and plan the therapeutical management of these disorders. The reader will get a systematization of the main etiological and diagnostic aspects that differentiate child-onset from adult-onset dystonias. The reader will also gain insights into specific treatments or cures.

Expert Opinion: Because dystonia can vary in clinical presentation and etiology, proper diagnosis and classification of these disorders are important in making therapeutic decisions.
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http://dx.doi.org/10.1517/17530059.2011.615831DOI Listing
November 2011

Are dyslexia and dyscalculia associated with Rolandic epilepsy? A short report on ten Italian patients.

Epileptic Disord 2007 Dec;9(4):432-6

Sezione di Neuropsichiatria Infantile, Dipartimento di Scienze Pediatriche e dell'Adolescenza dell'Università di Torino, Italy.

Rolandic epilepsy (RE) is the most common childhood epilepsy syndrome with a good, long-term outcome. Nevertheless, some studies indicate that children with RE have more scholastic and neuropsychological problems than controls. The purpose of this study was to describe neuropsychological findings in a small group of Italian children with RE, focusing on dyslexia and dyscalculia. Possible correlations between these findings and the age-at-onset of seizures, duration of active epilepsy, frequency, type and localization of epileptic discharges were examined. Children affected by RE, aged nine to eleven years were selected from patients admitted to the outpatient service of our Clinic. They underwent cognitive evaluation, specific evaluation for dyslexia and dyscalculia, and awake and sleep EEG recordings. We found two patients out of the ten with dyscalculia, one of whom also had characteristics of dyslexia. This small study suggests that dyscalculia and dyslexia might be more frequent than expected in children with RE. No significant correlations between this finding and EEG, seizure-frequency or age-at-onset of epilepsy were found in our patients.
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http://dx.doi.org/10.1684/epd.2007.0138DOI Listing
December 2007

Transmantle dysplasia in tuberous sclerosis: clinical features and surgical outcome in four children.

J Child Neurol 2002 Oct;17(10):752-8

Department of Child Neuropsychiatry, University of Turin, Turin, Italy.

In the literature, several malformations of cortical development have been described as additional lesions in tuberous sclerosis complex. Among these lesions, a very large focal cortical dysplasia has peculiar magnetic resonance imaging features: a signal abnormality that extends radially inward toward the lateral ventricle from the pachygyric cortical surface plus a homogeneous clinical picture. Affected patients have early-onset drug-resistant epilepsy and severe developmental delay. We describe the clinical, genetic, neurophysiologic, and neuroradiologic characteristics of four patients affected by tuberous sclerosis and this type of cortical dysplasia these patients are of special interest because they have been operated on for their dysplastic lesions. Total control of seizures has been achieved in the three children who underwent a complete lesionectomy. This result cannot be permanent, however, because of the presence of other cortical tubers which could become epileptogenic. All things considered, our choice was to give these children at least temporary relief from severe epilepsy and possibly support for developmental progression.
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http://dx.doi.org/10.1177/08830738020170101601DOI Listing
October 2002
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