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1. Studio Triveneto Lamotrigina: Risultati migliori per la casistica di sesso femminile nelle epilessie

Author

Garofalo, P. G, Ghiotto, M. C., Bassetti, M. A., Piovan, T., Tonon, A., Pauletto, Giada, Durisotti, C., Panozzo, M. T., Amerio, R., Artuso, G., Benetello, P. P., Bergonzi, Paolo, Biamino, P., Bongiovanni, L. G., Boniver, C., Bouquet, F., Cagnin, G., Calzolari, S., Candeago, R. M., Cernetti, R., Costa, Pietro, Crichiutti, Giovanni, Cristofori, Guido, Cruciatti, B., Dal Pozzo, F., DE MARCO, Pasquale, De Polo, G., Dolso, P. G., Gigli, Gian Luigi, Idone, D., Lucci, Bruno, Marinig, Roberto, Masè, G., Miottello, P. G., Munerati, V., Orrico, D., Paladin, F., Panico, ANNA CLARA, Pianalto, P., Privato, Fiorenza, Prugger, M., Rozza, L., Sanson, F., Schoenhuber, R., Serena, Marina, Stenta, G., Toldo, Massimiliano, Tortorici, G., Vecchi, M., and Zamagni, M.

Subjects
Survival Curve, Gender, Women, Neurology (clinical), Lamotrigine
Published
2003

2. Studio triveneto sulla Lamotrigina: Mantenimento ed efficacia terapeutica nell'arco di due anni

Author

Garofalo, P. G, DE MARCO, Pasquale, Benetello, P. P., Boniver, C., Marotti, E., Amerio, R., Bassetti, M. A., Bergonzi, Paolo, Biamino, P., Bongiovanni, L. G., Bouquet, F., Cagnin, G., Calzolari, S., Cernetti, R., Costa, Pietro, Cristofori, Guido, Cruciatti, B., Dal Pozzo, F., De Polo, G., Dolso, P. G., Gigli, Gian Luigi, Idone, D., Lucci, Bruno, Marinig, Roberto, Masè, G., Miottello, P. G., Munerati, V., Orrico, D., Paladin, F., Panico, ANNA CLARA, Pauletto, Giada, Pianalto, P., Privato, Fiorenza, Prugger, M., Rozza, L., Sanson, F., Schoenhuber, R., Serena, Marina, Toldo, Massimiliano, Tonon, A., Tortorici, G., and Zamagni, M.

Subjects
Persistence of Efficacy, Lamotrigine, Neurology (clinical)
Published
2002

3. Studio triveneto sulla lamotrigina: Correlazione tra efficacia del farmaco e l'età di esordio dell'epilessia nelle varie forme sindromiche

Author

Garofalo, P. G, DE MARCO, Pasquale, Boniver, C., Benetello, P. P., Marotti, E., Amerio, R., Bassetti, M. A., Bergonzi, Paolo, Biamino, P., Bongiovanni, L. G., Bouquet, F., Cagnin, G., Calzolari, S., Cernetti, R., Costa, Pietro, Cristofori, Guido, Cruciatti, B., Dal Pozzo, F., De Polo, G., Dolso, P. G., Gigli, Gian Luigi, Idone, D., Lucci, Bruno, Marinig, Roberto, Masè, G., Miottello, P. G., Munerati, V., Orrico, D., Paladin, F., Panico, ANNA CLARA, Pauletto, Giada, Pianalto, P., Privato, Fiorenza, Prugger, M., Rozza, L., Sanson, F., Schoenhuber, R., Serena, Marina, Toldo, Massimiliano, Tonon, A., Tortorici, G., and Zamagni, M.

Subjects
Epilepsy Onset Age, Lamotrigine, Neurology (clinical)
Published
2002

4. Studio triveneto sulla lamotrigina: Motivi di sospensione della terapia

Author

Benetello, P. P, Garofalo, P. G., Boniver, C., DE MARCO, Pasquale, Marotti, E., Amerio, R., Bassetti, M. A., Bergonzi, Paolo, Blamino, P., Bongiovanni, L. G., Bouquet, F., Cagnin, G., Calzolari, S., Cernetti, R., Costa, Pietro, Cristofori, Guido, Cruciatti, B., Dal Pozzo, F., De Polo, G., Dolso, P. G., Gigli, Gian Luigi, Idone, D., Lucci, Bruno, Marinig, Roberto, Masè, G., Miottello, P. G., Munerati, V., Orrico, D., Paladin, F., Panico, ANNA CLARA, Pauletto, Giada, Pianalto, P., Privato, Fiorenza, Prugger, M., Rozza, L., Sanson, F., Schoenhuber, R., Serena, Marina, Toldo, Massimiliano, Tonon, A., Tortorici, G., and Zamagni, M.

Subjects
Drop-out, Adverse Events, Neurology (clinical), Lamotrigine
Published
2002

11. Juvenile Idiopathic Stabbing Headache

Author

Soriani, S., primary, Battistella, P.A., additional, Arnaldi, C., additional, Carlo, L., additional, Cernetti, R., additional, Corra, S., additional, and Tosato, G., additional

Published
1996
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15. Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients

Author

Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross, H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg, A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC Consortium, French AHC Consortium, Collaborators: Bassi MT, International AHC Consortium., Borgatti, R, Cernetti, R, Di Rosa, G, Franchini, F, Gambardella, A, Giacanelli, M, Giannotta, M, Gobbi, G, Granata, T, De Grandis, E, Guerrini, R, Gurrieri, F, Incorpora, G, Nardocci, N, Neri, G, Ragona, F, Santucci, M, Sartori, S, Stagnaro, M, Tiziano, D, Vavassori, R, Veneselli, E, Vigevano, F, Zucca, C, Aicardi, J, An, I, Arbues, As, Arzimanoglou, A, Bahi- Buisson, N, Barthez, Ma, Billette de Villemeur, T, Bourgeois, M, Bru, M, Chabrol, B, Chaigne, D, Chaunu, Mp, Chiron, C, Cournelle, Am, Davoine, Cs, De St Martin, A, Deny, B, Desguerres, I, Des Portes, V, Doummar, D, Dulac, O, Dusser, A, Gerard, M, Gitiaux, C, Godet Kiesel, I, Gokben, S, Goutieres, F, Guerrin, Mh, Heron-Longe, B, Hubsch-Bonneaud, C, Hully, M, Husson, M, Ioos, Ch, Kaminska, A, Laroche, C, Lazaro, L, Lepine, A, Magy, L, Marchal, C, Michel, J, Milh, M, Motte, J, Moutard, Ml, Napuri, S, Nassogne, Mc, Neau, Jp, Nicole, S, Panagiotakaki, E, Passemard, S, Pedespan, Jm, Penniello- Valette MJ, Poncelin, D, Ponsot, G, Poulat, Al, Pouplard, F, Rabilloud, M, Riant, F, Rivier, F, Roelens, P, Roubergue, A, Sanlaville, D, Tardieu, M, Veyrieres, S, de Grandis, E, Fons, C, Sisodiya, S, de Jonghe, P, Goubeau, C, van den Maagdenberg AM, Mikati, M, Scheffer, I, Nevsimalova, S, Kemlink, D, Krepelova, A, Kolnikova, M, Sykora, P, Kaski, J, Hanna, M, Houlden, H, Ulate-Campos, A, Cancho, R, Eiris, J, López-Laso, E, Velázquez, R, Carilho, I, Ozelius, L, Suls, A, Ceulemans, B, Buyse, G, di Michele, M, Ferrari, M, Peeters-Scholte, Cm., Universitat de Barcelona, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Suls, Arvid, De Jonghe, Peter, Ceulemans, Berten, Italian IBAHC Consortium, French AHC Consortium, International AHC Consortium, UCL - (SLuc) Service de pédiatrie générale, and UCL - SSS/IREC/PEDI - Pôle de Pédiatrie

Subjects
Male, [SDV]Life Sciences [q-bio], medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Epilepsy, Genètica mèdica, 0302 clinical medicine, ATP1A3, inglese, Genetics(clinical), Pharmacology (medical), Young adult, Child, Genetics (clinical), Genetics, Medicine(all), 0303 health sciences, Mutation, Medical genetics, General Medicine, Middle Aged, Prognosis, 3. Good health, Child, Preschool, Alternating hemiplegia of childhood, Cohort, Hemiplègia, Female, Sodium-Potassium-Exchanging ATPase, Adult, medicine.medical_specialty, Adolescent, Hemiplegia, Biology, Genotype-phenotype, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, Preschool, Genetic Association Studies, 030304 developmental biology, Alternating hemiplegia of childhood, ATP1A3, Genotype-phenotype, Health Surveys, Infant, Research, Mutació (Biologia), Mutation (Biology), medicine.disease, Clinical trial, Human medicine, 030217 neurology & neurosurgery, Alternating hemiplegia
Abstract

Background Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations within the ATP1A3 gene and further establish any correlation with phenotype. Methods Clinical data from an international cohort of 155 AHC patients (84 females, 71 males; between 3 months and 52 years) were gathered using a specifically formulated questionnaire and analysed relative to the mutational ATP1A3 gene data for each patient. Results In total, 34 different ATP1A3 mutations were detected in 85 % (132/155) patients, seven of which were novel. In general, mutations were found to cluster into five different regions. The most frequent mutations included: p.Asp801Asn (43 %; 57/132), p.Glu815Lys (16 %; 22/132), and p.Gly947Arg (11 %; 15/132). Of these, p.Glu815Lys was associated with a severe phenotype, with more severe intellectual and motor disability. p.Asp801Asn appeared to confer a milder phenotypic expression, and p.Gly947Arg appeared to correlate with the most favourable prognosis, compared to the other two frequent mutations. Overall, the comparison of the clinical profiles suggested a gradient of severity between the three major mutations with differences in intellectual (p = 0.029) and motor (p = 0.039) disabilities being statistically significant. For patients with epilepsy, age at onset of seizures was earlier for patients with either p.Glu815Lys or p.Gly947Arg mutation, compared to those with p.Asp801Asn mutation (p

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16. Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases.

Author

Tempesta S, Sollima D, Ghezzo S, Politi V, Sinigaglia B, Balducci F, Celso B, Restuccia A, Stefani M, Cernetti R, Marzocchi C, Ciccone R, Zuffardi O, Bovicelli L, and Santarini L

Subjects
Abnormalities, Multiple genetics, Child, Preschool, Female, Humans, In Situ Hybridization, Fluorescence, Nucleic Acid Hybridization, Chromosome Deletion, Chromosomes, Human, Pair 15, Intellectual Disability genetics
Abstract

We report on a child with mild mental retardation, hypotelorism, blepharophimosis, face slight asymmetry and partial hypoplasia of corpus callosum, with an interstitial deletion of a chromosome 15. The deletion was molecularly characterized by array-CGH and FISH techniques. This rearrangement has a 7.18Mb extension and maps to 15q21.2q22.1. To date, there have been only six individuals reported with a deletion of 15q21; in three cases, the rearrangement was characterized by molecular cytogenetic techniques. After a comparison with these three cases, it appeared that the deletion we found is one of the smallest and it overlaps the distal portion of the ones taken into account. Finally, we tried to delineate the genotype-phenotype correlation in patients with a deletion of 15q21.

Published
2008
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17. Interatrial septal aneurysm and genetic prothrombotic disorders: possible interaction in the pathogenesis of pediatric stroke.

Author

Scarabeo V, Cernetti R, Zorzi C, De Conti F, Bini RM, Pantaleoni A, and Piovesana P

Subjects
Blood Coagulation Disorders, Inherited genetics, Child, Female, Heart Aneurysm complications, Heart Atria diagnostic imaging, Heart Septum diagnostic imaging, Humans, Magnetic Resonance Angiography, Ultrasonography, Blood Coagulation Disorders, Inherited complications, Heart Aneurysm diagnostic imaging, Prothrombin genetics, Stroke etiology
Abstract

Stroke in children is a rare condition and has a multifactorial etiology. The association between ischemic stroke in young adults and some minor cardiac abnormalities such as atrial septal aneurysm with or without interatrial shunting has recently been reported: however, the pathogenetic mechanism still remains unclear. Genetic and acquired prothrombotic disorders are also risk factors for cerebral ischemic events in children. We report a case of ischemic stroke in a 10-year-old female child who was heterozygous for the prothrombin G20210A variant and who presented with an atrial septal aneurysm associated with an interatrial shunt. We hypothesize that these risk factors play a synergic role but their relative importance and whether alone they can determine cerebral embolism remain to be determined.

Published
2001

18. beta-endorphin in plasma and monocytes in juvenile headache.

Author

Battistella PA, Bordin A, Cernetti R, Broetto S, Corrà S, Piva E, and Plebani M

Subjects
5-Hydroxytryptophan therapeutic use, Adolescent, Adult, Child, Female, Headache drug therapy, Humans, Male, Migraine Disorders blood, Migraine Disorders drug therapy, Serotonin blood, Tension-Type Headache blood, Tension-Type Headache drug therapy, Headache blood, Monocytes chemistry, beta-Endorphin analysis, beta-Endorphin blood
Abstract

Interictal serum levels of serotonin and plasma and mononuclear cell concentrations of beta-endorphin were measured in 20 juvenile patients (13 suffering from migraine without aura and 7 from episodic tension-type headache) before and after 3 months of L-5-hydroxytryptophan treatment (5 mg/kg/day) and compared with a control group of 17 headache-free healthy subjects. While no significant differences in serum serotonin levels emerged between the three groups (migraine 104.6 +/- 26 micrograms/L, tension-type headache 90.7 +/- 26.2 micrograms/L, controls 96 +/- 32.9 micrograms/L), significantly lower plasma and mononuclear cell concentrations of beta-endorphin were found in both patient groups by comparison with the healthy controls (beta-endorphin in plasma: migraine sufferers 16.2 +/- 4.2 pmol/L [P < 0.05], tension-type headache subjects 14.5 +/- 1.7 pmol/L [P < 0.001] vs controls 21.3 +/- 4.6 pmol/L and respectively, beta-endorphin in mononuclear cells: migraine sufferers 110.5 +/- 16.4 pmol/10(6) GB/L [P < 0.001], tension-type headache subjects 142.3 +/- 22.7 pmol/10(6) GB/L [P < 0.001] vs controls 359.3 +/- 31.6 pmol/10(6) GB/L). No differences emerged between the two clinical forms of headache for the plasma and mononuclear cell concentrations of beta-endorphin. After L-5-hydroxytryptophan treatment, serum serotonin and both plasma and mononuclear cell beta-endorphin levels tended to be higher, though not significantly so, than prior to treatment, and the clinical score (frequency x intensity of headache attacks) was significantly lower in both headache groups than at the baseline. This study supports the theory that opiate analgesic system function is abnormally low in juvenile primary headache as in adults, and confirms that administering serotoninergic precursor drugs increases beta-endorphin, even in the peripheral blood, and may favorably affect clinical symptoms.

Published
1996
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19. [Migraine and food intolerance: a controlled study in pediatric patients].

Author

Guariso G, Bertoli S, Cernetti R, Battistella PA, Setari M, and Zacchello F

Subjects
Adolescent, Child, Double-Blind Method, Female, Humans, Male, Food Hypersensitivity complications, Migraine Disorders diet therapy, Migraine Disorders etiology
Abstract

The possible correlation between migraine and food intolerance has been found to be of great interest in the recent literature. We have studied 43 patients aged from 7 to 18 years suffering from migraine without aura according to the classification of International Headache Society (IHS): they had at least 2 attacks monthly and they were pharmacological free of any prophylactic treatment for the latest three months. Each patient was given an allergologic anamnesis. Half of them (group A) were first in oligoantigenic regimen (including 8 simple foods) for 4 weeks. Afterward each patient has been challenged weekly in an open trial, introducing in the diet the different foods and additives previously eliminated; then they have been controlled in a simple double blind study. We have taken skin tests (PRICK method) for the most important allergens (foods and main inhalants), plasma levels of total and specific IgE (PRIST and RAST method), and moreover we have taken histamine plasma levels at the beginning and at the end of the oligoantigenic diet, and during challenge test, only in case of headache attacks. The second half of the patients (group B) were not following any diet nor a pharmacological prophylaxis, but they have been followed up with a clinical diary. Among the patients on oligoantigenic diet 12 only concluded the trial: 6/12 presented a completed remission of headache, 5/12 had a significant improvement of the migrainous pattern, 1/12 patients did not get any improvement after the dietetic treatment. The food recognized responsible of the attacks were: cacao, banana, egg, hazelnuts.(ABSTRACT TRUNCATED AT 250 WORDS)

Published
1993

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