L. Fusco - Academia.edu (original) (raw)

Papers by L. Fusco

Neurological Sciences, 2014

The fifth issue of the Chilean Journal of Statistics contains the following seven articles that a... more The fifth issue of the Chilean Journal of Statistics contains the following seven articles that address various interesting topics related to statistics and probability: (i) The first article is authored by Carmen Batanero and Carmen Díaz. Dr. Batanero has a wide recognition around the world for her contributions in the field of statistics education. In this article, the authors introduce some reflections on the importance of training school teachers to teach probability. They analyze the reasons why the teaching of probability is difficult for mathematics teachers. In addition, they describe the contents needed in the preparation of teachers to teach probability and suggest possible activities to carry out this training.

Current opinion in neurology, 2015

Malformations of cortical development (MCD) are increasingly recognized as causes of epilepsy and... more Malformations of cortical development (MCD) are increasingly recognized as causes of epilepsy and neurodevelopmental disorders. This review summarizes recent developments in the classification, specifically focusing on how genetic and cellular pathway advances are changing our understanding of MCD and how this applies to clinical care. Recent studies have shown that mutations can have variable impact on not only the pattern of MCD but also the location of cortical involvement. Regulatory G protein GPR56 mutations can selectively cause polymicrogyria in the Sylvian fissure bilaterally. In addition, recent data suggest that somatic mutations can be detected in about 30% of patients with diffuse and focal MCD but the majority are not detectable with common sequencing. Similarly, MRI at higher field is able to detect abnormalities not seen on clinical scanners. The classification scheme and pathogenesis of MCD converge by common genes affecting similar pathways, which, in turn, modify t...

Epileptic disorders : international epilepsy journal with videotape, 1999

Sleep starts, also called hypnagogic or hypnic jerks, are bilateral, sometimes asymmetric, usuall... more Sleep starts, also called hypnagogic or hypnic jerks, are bilateral, sometimes asymmetric, usually single, brief body jerks that coincide with sleep onset. We describe sleep starts occurring repetitively in three epileptic children with spastic-dystonic diplegia and mental retardation. Repetitive sleep starts began at age 18 months in two children and at 9 months in the third. All three children had had feto-neonatal asphyxia; two presented with spastic and one with dystonic tetraparesis. One had West syndrome and two had partial motor seizures in the first year of life. Seizures were controlled in all three patients by antiepileptic drug therapy. Video/EEG recordings of all the children during the afternoon nap revealed clusters of sleep starts during the transition between wakefulness and sleep. Cluster lasted 4-15 min and comprised from twenty to twenty-nine contractions. The EEG counterpart of the event sometimes showed an arousal response, at times inducing complete awakening. ...

Neurogenetics, 2006

Neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive neurodegenerative disorders typical... more Neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive neurodegenerative disorders typically characterized by the accumulation of autofluorescent material in tissues. On the basis of clinical features, age at onset, and molecular genetic defects, it is possible to distinguish at least nine forms. The CLN8 form was first described in Finland, where all the patients are homozygous for a p.Arg24Gly mutation in CLN8. More recently, it has been found that a subset of a Turkish variant of late infantile NCL (v-LINCL) is also associated with CLN8 mutations. To identify the molecular defect in Italian patients with v-LINCL, the CLN8 gene was directly sequenced in 10 patients. Controls were screened by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Five fluorescent-labeled microsatellite markers covering 1 cM around the gene were used for haplotype analysis. In three Italian v-LINCL patients, identified in a small area in southern Italy, we detected four new mutations in CLN8: c.66delG (p.Gly22fs), c.88G>C (p.Ala30Pro), c.473A>G (p.Tyr158Cys), and c.581A>G (p. Gln194Arg). The single-base deletion was found in two unrelated patients. The novel missense mutations were not identified in ethnically matched control chromosomes. Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.

European Journal of Paediatric Neurology, 2011

Background: Narcolepsy is a chronic disease with a prevalence of 0.05% and is characterized by ex... more Background: Narcolepsy is a chronic disease with a prevalence of 0.05% and is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hypnogogic hallucinations, automatic behavior, and disrupted nocturnal sleep. Even though the first symptoms usually occur in childhood or adolescence, diagnosis is most commonly made in mid-adulthood. Although narcolepsy has been studied extensively, its precise cause is unknown. Loss of hypocretin containing neurons in the lateral hypothalamus has been noted in autopsy studies, and the cerebrospinal fluid level of hypocretin is reduced in patients with narcolepsy with cataplexy. It's known that individuals with HLA-DQB1 has a higher incidence of narcolepsy. It has been suggested that a set of genetic defects combined with environmental factors may cause narcolepsy. Such factors may be infections, inflammatory reactions and recently allegations have been made against the H1N1 influenza vaccine. Regarding treatment, the most used medications are modafinil, methylphenidate, sodium oxybate, and venlafaxine. Antidepressants drugs such as, tricyclic antidepressants, or selective serotonin reuptake inhibitors are often tried. Aim of the study: The study includes children diagnosed with narcolepsy in western Sweden between the first of January 2000 to the 31 of December 2010. The aim of the study is to describe tha annual incidence, age at onset, clinical symptoms and signs, results from different investigations including neuroimaging, MSLT, HLA typing and measurements of spinal hypocretin-A and to analyze the possible relationship to previous infections or immunization against H1N1 influenza. The results from pulse treatment with intravenous immunoglobulin will also be presented. 2FC1.2 The expanding clinical phenotype of paediatric autoimmune encephalitis − comparison of CNS autoantibody positive and negative cases

European Journal of Paediatric Neurology, 1999

Epilepsia, 1995

Benign myoclonic epilepsy of infancy (BMEI) is an idiopathic disorder characterized by spontaneou... more Benign myoclonic epilepsy of infancy (BMEI) is an idiopathic disorder characterized by spontaneous myoclonic attacks with onset in the first 2 years of life. We observed 6 neurologically normal infants (aged 6-21 months) with attacks that resembled those of BMEI but that occurred as reflex responses to unexpected auditory and tactile stimuli. four infants also had rare spontaneous attacks. These reflex attacks consisted of isolated muscle jerks or clusters of up to eight symmetric limb jerks affecting mainly the arms. Five of the children had a family history of epilepsy or febrile convulsions. Myoclonic attacks disappeared in 4-14 months. In 3 patients, the jerks stopped spontaneously; the others responded to valproate (VPA). Myoclonus could be elicited in wakefulness and in sleep. Ictal EEGs showed brief generalized spike- or polyspike-and-wave discharges. Interictal EEGs were normal during wakefulness; during sleep, brief generalized discharges were evident. We propose that reflex myoclonic epilepsy of infancy (RMEI) is a new age-dependent idiopathic generalized epileptic (IGE) syndrome, with an apparently good prognosis.

Epilepsia, 2011

Purpose: To describe clinical and neuropsychological features of six consecutive sporadic girls w... more Purpose: To describe clinical and neuropsychological features of six consecutive sporadic girls with protocadherin 19 (PCDH19) mutations. Methods: 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. Key Findings: 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. Significance: 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.

Brain and Development, 1992

Neuronal migration anomalies commonly cause seizures that are partial in type and generally refra... more Neuronal migration anomalies commonly cause seizures that are partial in type and generally refractory to medical treatment. Epilepsia partialis continua (EPC), an unusual form of epilepsy commonly related to acute damage of the cerebral cortex or to a chronic lesion, has never been described in a patient with neuronal migration anomalies. In 50 children with epilepsy due to neuronal migration anomalies, we observed two cases of EPC. These two children had unilateral neuronal migration abnormalities with partial seizures other than EPC and contralateral hemiparesis. Epilepsia partialis continua appeared two to three years after the onset of partial attacks and was accompanied by a worsening of the children's previous hemiparesis. Although a rare seizure manifestation in children with neuronal migration anomalies, when it does appear, EPC can aggravate the clinical neurological condition and should always be investigated for in these cases. Because its clinical appearance is often subtle, as in these two children, EPC may easily remain undiagnosed Key words: Epilepsia partialis continua, neuronal migration anomalies, congenital hemiparesis.

Brain and Development, 2010

Annals of Neurology, 1994

Acta Paediatrica, 2007

Resistant epilepsy is defined as the persistence of unacceptable seizures, despite correct drug t... more Resistant epilepsy is defined as the persistence of unacceptable seizures, despite correct drug treatment, or control of seizures at the cost of excessive side effects. About 30% of partial seizures are resistant to treatment; many of them is potentially a candidate for surgical treatment. Selection of patients is based fundamentally on precise identification of the epileptogenic area and on the evaluation that possible removal of that area will not be followed by serious neurological or neuropsychological deficits, or by onset of seizures in another part of the brain. To this end, careful clinical, neurophysiological and functional studies are conducted. Compared with adults, videoelectroencephalographic (EEG) study of seizures in childhood is more difficult because of the lack of patient cooperation and, therefore, the lack of every subjective element in the seizures. Furthermore, the criteria for defining drug resistance in childhood are still under discussion, as many epilepsies are age dependent and seizures stop with growth. Despite this, the age at time of surgery has been steadily decreasing, in the conviction that the persistence of intractable partial epilepsy is detrimental to cognitive development and can damage brain areas that are apparently healthy. The clinical and EEG criteria for epilepsies that are secondary to some specific disorders have been defined, e.g. hemimegalencephalia and focal cortical dysplasias often produce epilepsy with onset in the first days of life characterized by partial seizures and subintrant spasms, EEG record of focal or hemispheric burst suppression and drug resistance that can be defined within the first months of life. Prolonged video-EEG monitoring is always necessary to establish congruence between the area in which the seizure originates and the brain lesion evidenced at neuroimaging. Correct monitoring of seizures means close cooperation between neurologist, neurophysiology technician and the patient, if the child is at least 5-6 y old. Absence of cooperation also limits the use of in-depth recording. Neuropsychological assessment of the child can be of great help in defining the area damaged by the epileptogenic site as well as the state of the other brain areas. Close cooperation between neurologist, radiologist, neuropsychologist and brain surgeon is necessary for a case-by-case assessment of indication for surgical treatment.

European Journal of Neurology, 2010

We describe a group of previously normal children who developed severe focal epilepsy after an ac... more We describe a group of previously normal children who developed severe focal epilepsy after an acute/sub-acute illness resembling encephalitis. This is a retrospective study. An acute phase (encephalitis/encephalopathy period) and a chronic phase (chronic focal resistant epilepsy) were defined. Eight patients were enrolled. The median age at onset was 6.6 years (range 8 months-17.6 years). In the acute phase, fever was the first symptom in all cases and was associated with seizures and status epilepticus. All patients had focal seizures arising in both hemispheres. Seizure onset occurred in the frontal and temporal regions. EEGs showed slowing background activity associated with focal or diffuse slow waves with rare epileptiform abnormalities. Cerebrospinal fluid oligoclonal bands were observed in four out of six patients tested. MRI images showed bilateral peri-insular hyperintensity in four cases. Five patients received corticosteroids, and in four cases, they were given along with intravenous immunoglobulins. The median duration of the acute phase was 19 days (range 15-30 days). During the chronic phase, which followed the acute phase without interval, patients presented with drug-resistant focal seizures and neuropsychological deficits, which ranged from hyperactivity and attention deficits to short-term verbal memory deficit, pervasive developmental disorders, and language delay. Considering the clinical presentations, EEG findings, and the associated occurrence of non-specific immunological activations, a possible immune-mediated pathogenesis can be hypothesized, although firm conclusions cannot be drawn out.

Movement …, 1993

Summary: Benign neonatal sleep myoclonus is a syndrome characterized by the occurrence of repetit... more Summary: Benign neonatal sleep myoclonus is a syndrome characterized by the occurrence of repetitive myoclonic jerks of the extremities exclusively during non-rapid eye movement sleep in the early life of healthy newborns. No etiological factors are present. The onset is within ...

Hemimegalencephaly is a rare congenital malformation characterised by overgrowth of one hemispher... more Hemimegalencephaly is a rare congenital malformation characterised by overgrowth of one hemisphere. Although it is commonly thought to be associated with neurological deficits, developmental delay, and intractable epilepsy, the clinical expression of hemimegalencephaly, can vary widely. This patient was neurologically and neuropsychologically normal apart from rare partial seizures.

Journal of Epilepsy, 1990

Mesial frontal lobe epilepsy provokes a complex clinical syndrome characterized by mainly nocturn... more Mesial frontal lobe epilepsy provokes a complex clinical syndrome characterized by mainly nocturnal occurrence of seizures with stereotyped patterns of repetitive rhythmic movements and diffuse or lateralized postures. Because the EEG is sometimes normal, this syndrome is not ...

Annals of Neurology, 1994

Benign infantile familial convulsions (BIFC) and benign familial neonatal convulsions (BFNC) are ... more Benign infantile familial convulsions (BIFC) and benign familial neonatal convulsions (BFNC) are two forms of familial convulsions having an age of onset within the first year of life. The gene responsible for BFNC has been mapped to chromosome 20q in the close vicinity of D20S19 and D20S20 markers. We performed linkage analysis between BIFC and D20!319-D20S20 in eight families in order to know whether the BFNC gene is also implicated in BIFC. Several apparent obligate crossovers between affected members were detected. The data here presented demonstrate that the BFNC gene is not responsible for BIFC.

Neurological Sciences, 2014

The fifth issue of the Chilean Journal of Statistics contains the following seven articles that a... more The fifth issue of the Chilean Journal of Statistics contains the following seven articles that address various interesting topics related to statistics and probability: (i) The first article is authored by Carmen Batanero and Carmen Díaz. Dr. Batanero has a wide recognition around the world for her contributions in the field of statistics education. In this article, the authors introduce some reflections on the importance of training school teachers to teach probability. They analyze the reasons why the teaching of probability is difficult for mathematics teachers. In addition, they describe the contents needed in the preparation of teachers to teach probability and suggest possible activities to carry out this training.

Current opinion in neurology, 2015

Malformations of cortical development (MCD) are increasingly recognized as causes of epilepsy and... more Malformations of cortical development (MCD) are increasingly recognized as causes of epilepsy and neurodevelopmental disorders. This review summarizes recent developments in the classification, specifically focusing on how genetic and cellular pathway advances are changing our understanding of MCD and how this applies to clinical care. Recent studies have shown that mutations can have variable impact on not only the pattern of MCD but also the location of cortical involvement. Regulatory G protein GPR56 mutations can selectively cause polymicrogyria in the Sylvian fissure bilaterally. In addition, recent data suggest that somatic mutations can be detected in about 30% of patients with diffuse and focal MCD but the majority are not detectable with common sequencing. Similarly, MRI at higher field is able to detect abnormalities not seen on clinical scanners. The classification scheme and pathogenesis of MCD converge by common genes affecting similar pathways, which, in turn, modify t...

Epileptic disorders : international epilepsy journal with videotape, 1999

Sleep starts, also called hypnagogic or hypnic jerks, are bilateral, sometimes asymmetric, usuall... more Sleep starts, also called hypnagogic or hypnic jerks, are bilateral, sometimes asymmetric, usually single, brief body jerks that coincide with sleep onset. We describe sleep starts occurring repetitively in three epileptic children with spastic-dystonic diplegia and mental retardation. Repetitive sleep starts began at age 18 months in two children and at 9 months in the third. All three children had had feto-neonatal asphyxia; two presented with spastic and one with dystonic tetraparesis. One had West syndrome and two had partial motor seizures in the first year of life. Seizures were controlled in all three patients by antiepileptic drug therapy. Video/EEG recordings of all the children during the afternoon nap revealed clusters of sleep starts during the transition between wakefulness and sleep. Cluster lasted 4-15 min and comprised from twenty to twenty-nine contractions. The EEG counterpart of the event sometimes showed an arousal response, at times inducing complete awakening. ...

Neurogenetics, 2006

Neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive neurodegenerative disorders typical... more Neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive neurodegenerative disorders typically characterized by the accumulation of autofluorescent material in tissues. On the basis of clinical features, age at onset, and molecular genetic defects, it is possible to distinguish at least nine forms. The CLN8 form was first described in Finland, where all the patients are homozygous for a p.Arg24Gly mutation in CLN8. More recently, it has been found that a subset of a Turkish variant of late infantile NCL (v-LINCL) is also associated with CLN8 mutations. To identify the molecular defect in Italian patients with v-LINCL, the CLN8 gene was directly sequenced in 10 patients. Controls were screened by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Five fluorescent-labeled microsatellite markers covering 1 cM around the gene were used for haplotype analysis. In three Italian v-LINCL patients, identified in a small area in southern Italy, we detected four new mutations in CLN8: c.66delG (p.Gly22fs), c.88G>C (p.Ala30Pro), c.473A>G (p.Tyr158Cys), and c.581A>G (p. Gln194Arg). The single-base deletion was found in two unrelated patients. The novel missense mutations were not identified in ethnically matched control chromosomes. Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.

European Journal of Paediatric Neurology, 2011

Background: Narcolepsy is a chronic disease with a prevalence of 0.05% and is characterized by ex... more Background: Narcolepsy is a chronic disease with a prevalence of 0.05% and is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hypnogogic hallucinations, automatic behavior, and disrupted nocturnal sleep. Even though the first symptoms usually occur in childhood or adolescence, diagnosis is most commonly made in mid-adulthood. Although narcolepsy has been studied extensively, its precise cause is unknown. Loss of hypocretin containing neurons in the lateral hypothalamus has been noted in autopsy studies, and the cerebrospinal fluid level of hypocretin is reduced in patients with narcolepsy with cataplexy. It's known that individuals with HLA-DQB1 has a higher incidence of narcolepsy. It has been suggested that a set of genetic defects combined with environmental factors may cause narcolepsy. Such factors may be infections, inflammatory reactions and recently allegations have been made against the H1N1 influenza vaccine. Regarding treatment, the most used medications are modafinil, methylphenidate, sodium oxybate, and venlafaxine. Antidepressants drugs such as, tricyclic antidepressants, or selective serotonin reuptake inhibitors are often tried. Aim of the study: The study includes children diagnosed with narcolepsy in western Sweden between the first of January 2000 to the 31 of December 2010. The aim of the study is to describe tha annual incidence, age at onset, clinical symptoms and signs, results from different investigations including neuroimaging, MSLT, HLA typing and measurements of spinal hypocretin-A and to analyze the possible relationship to previous infections or immunization against H1N1 influenza. The results from pulse treatment with intravenous immunoglobulin will also be presented. 2FC1.2 The expanding clinical phenotype of paediatric autoimmune encephalitis − comparison of CNS autoantibody positive and negative cases

European Journal of Paediatric Neurology, 1999

Epilepsia, 1995

Benign myoclonic epilepsy of infancy (BMEI) is an idiopathic disorder characterized by spontaneou... more Benign myoclonic epilepsy of infancy (BMEI) is an idiopathic disorder characterized by spontaneous myoclonic attacks with onset in the first 2 years of life. We observed 6 neurologically normal infants (aged 6-21 months) with attacks that resembled those of BMEI but that occurred as reflex responses to unexpected auditory and tactile stimuli. four infants also had rare spontaneous attacks. These reflex attacks consisted of isolated muscle jerks or clusters of up to eight symmetric limb jerks affecting mainly the arms. Five of the children had a family history of epilepsy or febrile convulsions. Myoclonic attacks disappeared in 4-14 months. In 3 patients, the jerks stopped spontaneously; the others responded to valproate (VPA). Myoclonus could be elicited in wakefulness and in sleep. Ictal EEGs showed brief generalized spike- or polyspike-and-wave discharges. Interictal EEGs were normal during wakefulness; during sleep, brief generalized discharges were evident. We propose that reflex myoclonic epilepsy of infancy (RMEI) is a new age-dependent idiopathic generalized epileptic (IGE) syndrome, with an apparently good prognosis.

Epilepsia, 2011

Purpose: To describe clinical and neuropsychological features of six consecutive sporadic girls w... more Purpose: To describe clinical and neuropsychological features of six consecutive sporadic girls with protocadherin 19 (PCDH19) mutations. Methods: 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. Key Findings: 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. Significance: 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.

Brain and Development, 1992

Neuronal migration anomalies commonly cause seizures that are partial in type and generally refra... more Neuronal migration anomalies commonly cause seizures that are partial in type and generally refractory to medical treatment. Epilepsia partialis continua (EPC), an unusual form of epilepsy commonly related to acute damage of the cerebral cortex or to a chronic lesion, has never been described in a patient with neuronal migration anomalies. In 50 children with epilepsy due to neuronal migration anomalies, we observed two cases of EPC. These two children had unilateral neuronal migration abnormalities with partial seizures other than EPC and contralateral hemiparesis. Epilepsia partialis continua appeared two to three years after the onset of partial attacks and was accompanied by a worsening of the children's previous hemiparesis. Although a rare seizure manifestation in children with neuronal migration anomalies, when it does appear, EPC can aggravate the clinical neurological condition and should always be investigated for in these cases. Because its clinical appearance is often subtle, as in these two children, EPC may easily remain undiagnosed Key words: Epilepsia partialis continua, neuronal migration anomalies, congenital hemiparesis.

Brain and Development, 2010

Annals of Neurology, 1994

Acta Paediatrica, 2007

Resistant epilepsy is defined as the persistence of unacceptable seizures, despite correct drug t... more Resistant epilepsy is defined as the persistence of unacceptable seizures, despite correct drug treatment, or control of seizures at the cost of excessive side effects. About 30% of partial seizures are resistant to treatment; many of them is potentially a candidate for surgical treatment. Selection of patients is based fundamentally on precise identification of the epileptogenic area and on the evaluation that possible removal of that area will not be followed by serious neurological or neuropsychological deficits, or by onset of seizures in another part of the brain. To this end, careful clinical, neurophysiological and functional studies are conducted. Compared with adults, videoelectroencephalographic (EEG) study of seizures in childhood is more difficult because of the lack of patient cooperation and, therefore, the lack of every subjective element in the seizures. Furthermore, the criteria for defining drug resistance in childhood are still under discussion, as many epilepsies are age dependent and seizures stop with growth. Despite this, the age at time of surgery has been steadily decreasing, in the conviction that the persistence of intractable partial epilepsy is detrimental to cognitive development and can damage brain areas that are apparently healthy. The clinical and EEG criteria for epilepsies that are secondary to some specific disorders have been defined, e.g. hemimegalencephalia and focal cortical dysplasias often produce epilepsy with onset in the first days of life characterized by partial seizures and subintrant spasms, EEG record of focal or hemispheric burst suppression and drug resistance that can be defined within the first months of life. Prolonged video-EEG monitoring is always necessary to establish congruence between the area in which the seizure originates and the brain lesion evidenced at neuroimaging. Correct monitoring of seizures means close cooperation between neurologist, neurophysiology technician and the patient, if the child is at least 5-6 y old. Absence of cooperation also limits the use of in-depth recording. Neuropsychological assessment of the child can be of great help in defining the area damaged by the epileptogenic site as well as the state of the other brain areas. Close cooperation between neurologist, radiologist, neuropsychologist and brain surgeon is necessary for a case-by-case assessment of indication for surgical treatment.

European Journal of Neurology, 2010

We describe a group of previously normal children who developed severe focal epilepsy after an ac... more We describe a group of previously normal children who developed severe focal epilepsy after an acute/sub-acute illness resembling encephalitis. This is a retrospective study. An acute phase (encephalitis/encephalopathy period) and a chronic phase (chronic focal resistant epilepsy) were defined. Eight patients were enrolled. The median age at onset was 6.6 years (range 8 months-17.6 years). In the acute phase, fever was the first symptom in all cases and was associated with seizures and status epilepticus. All patients had focal seizures arising in both hemispheres. Seizure onset occurred in the frontal and temporal regions. EEGs showed slowing background activity associated with focal or diffuse slow waves with rare epileptiform abnormalities. Cerebrospinal fluid oligoclonal bands were observed in four out of six patients tested. MRI images showed bilateral peri-insular hyperintensity in four cases. Five patients received corticosteroids, and in four cases, they were given along with intravenous immunoglobulins. The median duration of the acute phase was 19 days (range 15-30 days). During the chronic phase, which followed the acute phase without interval, patients presented with drug-resistant focal seizures and neuropsychological deficits, which ranged from hyperactivity and attention deficits to short-term verbal memory deficit, pervasive developmental disorders, and language delay. Considering the clinical presentations, EEG findings, and the associated occurrence of non-specific immunological activations, a possible immune-mediated pathogenesis can be hypothesized, although firm conclusions cannot be drawn out.

Movement …, 1993

Summary: Benign neonatal sleep myoclonus is a syndrome characterized by the occurrence of repetit... more Summary: Benign neonatal sleep myoclonus is a syndrome characterized by the occurrence of repetitive myoclonic jerks of the extremities exclusively during non-rapid eye movement sleep in the early life of healthy newborns. No etiological factors are present. The onset is within ...

Hemimegalencephaly is a rare congenital malformation characterised by overgrowth of one hemispher... more Hemimegalencephaly is a rare congenital malformation characterised by overgrowth of one hemisphere. Although it is commonly thought to be associated with neurological deficits, developmental delay, and intractable epilepsy, the clinical expression of hemimegalencephaly, can vary widely. This patient was neurologically and neuropsychologically normal apart from rare partial seizures.

Journal of Epilepsy, 1990

Mesial frontal lobe epilepsy provokes a complex clinical syndrome characterized by mainly nocturn... more Mesial frontal lobe epilepsy provokes a complex clinical syndrome characterized by mainly nocturnal occurrence of seizures with stereotyped patterns of repetitive rhythmic movements and diffuse or lateralized postures. Because the EEG is sometimes normal, this syndrome is not ...

Annals of Neurology, 1994

Benign infantile familial convulsions (BIFC) and benign familial neonatal convulsions (BFNC) are ... more Benign infantile familial convulsions (BIFC) and benign familial neonatal convulsions (BFNC) are two forms of familial convulsions having an age of onset within the first year of life. The gene responsible for BFNC has been mapped to chromosome 20q in the close vicinity of D20S19 and D20S20 markers. We performed linkage analysis between BIFC and D20!319-D20S20 in eight families in order to know whether the BFNC gene is also implicated in BIFC. Several apparent obligate crossovers between affected members were detected. The data here presented demonstrate that the BFNC gene is not responsible for BIFC.