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Research Output 1983 2019

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Article
2019

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

the Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Commission, Mar 1 2019, In : Annals of Clinical and Translational Neurology. 6, 3, p. 475-485 11 p.

Research output: Contribution to journalArticle

Open Access
Partial Epilepsy
Sirolimus
Genes
Gene Components
Exome

Hyper-activation of Aurora kinase a-polo-like kinase 1-FOXM1 axis promotes chronic myeloid leukemia resistance to tyrosine kinase inhibitors

Mancini, M., De Santis, S., Monaldi, C., Bavaro, L., Martelli, M., Castagnetti, F., Gugliotta, G., Rosti, G., Santucci, M. A., Martinelli, G., Cavo, M. & Soverini, S., May 23 2019, In : Journal of Experimental and Clinical Cancer Research. 38, 1, 216.

Research output: Contribution to journalArticle

Open Access
Aurora Kinases
Aurora Kinase A
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Protein-Tyrosine Kinases
TCF Transcription Factors

Mapping the Effect of Interictal Epileptic Activity Density During Wakefulness on Brain Functioning in Focal Childhood Epilepsies With Centrotemporal Spikes

Vaudano, A. E., Avanzini, P., Cantalupo, G., Filippini, M., Ruggieri, A., Talami, F., Caramaschi, E., Bergonzini, P., Vignoli, A., Veggiotti, P., Guerra, A., Gessaroli, G., Santucci, M., Canevini, M. P., Piccolo, B., Pisani, F., Gobbi, G., Dalla Bernardina, B. & Meletti, S., Dec 19 2019, In : Frontiers in Neurology. 10, 1316.

Research output: Contribution to journalArticle

Open Access
Rolandic Epilepsy
Partial Epilepsy
Wakefulness
Brain
Hemodynamics
2018

Effect of valproic acid on perampanel pharmacokinetics in patients with epilepsy

the Perampanel Study Group, Jul 1 2018, In : Epilepsia. 59, 7, p. e103-e108

Research output: Contribution to journalArticle

Valproic Acid
Epilepsy
Pharmacokinetics
Enzymes
zonisamide

Headache attributed to aeroplane travel: the first multicentric survey in a paediatric population affected by primary headaches

De Carlo, D., Toldo, I., Tamborino, A. M., Bolzonella, B., Ledda, M. G., Margari, L., Raieli, V., Santucci, M., Sciruicchio, V., Vecchio, A., Zanini, S., Sartori, S., Gatta, M., Verrotti, A. & Battistella, P. A., Nov 14 2018, In : The journal of headache and pain. 19, 1, 6 p., 108.

Research output: Contribution to journalArticle

Open Access
Headache
Pediatrics
Aircraft
Population
Surveys and Questionnaires
2016

Extrastriate visual cortex in idiopathic occipital epilepsies: The contribution of retinotopic areas to spike generation

Meletti, S., Ruggieri, A., Avanzini, P., Caramaschi, E., Filippini, M., Bergonzini, P., Monti, G., Vignoli, A., Olivotto, S., Mastrangelo, M., Santucci, M., Gobbi, G., Veggiotti, P. & Vaudano, A. E., 2016, In : Epilepsia. 57, 6, p. 896-906

Research output: Contribution to journalArticle

Visual Cortex
Epilepsy
Hemodynamics
Visual Pathways
Magnetic Resonance Imaging

Extrastriate visual cortex in idiopathic occipital epilepsies: The contribution of retinotopic areas to spike generation

Meletti, S., Ruggieri, A., Avanzini, P., Caramaschi, E., Filippini, M., Bergonzini, P., Monti, G., Vignoli, A., Olivotto, S., Mastrangelo, M., Santucci, M., Gobbi, G., Veggiotti, P. & Vaudano, A. E., 2016, (Accepted/In press) In : Epilepsia.

Research output: Contribution to journalArticle

Visual Cortex
Epilepsy
Hemodynamics
Visual Pathways
Magnetic Resonance Imaging

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

Ricos, M. G., Hodgson, B. L., Pippucci, T., Saidin, A., Ong, Y. S., Heron, S. E., Licchetta, L., Bisulli, F., Bayly, M. A., Hughes, J., Baldassari, S., Palombo, F., Santucci, M., Meletti, S., Berkovic, S. F., Rubboli, G., Thomas, P. Q., Scheffer, I. E., Tinuper, P., Geoghegan, J. & 2 others, Schreiber, A. W. & Dibbens, L. M., Jan 1 2016, In : Annals of Neurology. 79, 1, p. 120-131 12 p.

Research output: Contribution to journalArticle

Partial Epilepsy
Sirolimus
Mutation
Exome
Genes

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS

Bartolini, E., Falchi, M., Zellini, F., Parrini, E., Grisotto, L., Cosottini, M., Posar, A., Parmeggiani, A., Ambrosetto, G., Ferrari, A. R., Santucci, M., Salas-Puig, J., Barba, C. & Guerrini, R., Mar 29 2016, In : Neurology. 86, 13, p. 1250-1259 10 p.

Research output: Contribution to journalArticle

Thalamic Diseases
Epilepsy
Sleep
Thalamus
Rolandic Epilepsy
2015

Headache in epilepsy: prevalence and clinical features

Mainieri, G., Cevoli, S., Giannini, G., Zummo, L., Leta, C., Broli, M., Ferri, L., Santucci, M., Posar, A., Avoni, P., Cortelli, P., Tinuper, P. & Bisulli, F., Dec 7 2015, In : Journal of Headache and Pain. 16, 1, 72.

Research output: Contribution to journalArticle

Headache
Epilepsy
Stroke
Tension-Type Headache
Migraine Disorders
2014

Analysis of RBFOX1 gene expression in lymphoblastoid cell lines of Italian discordant autism spectrum disorders sib-pairs

Prandini, P., Zusi, C., Malerba, G., ITAN, N. V., Pignatti, P. F., Trabetti, E., Allibrio, G., Amato, M. C., Anchisi, L., Andruccioli, M., Battistella, P. A., Benedetti, S., Benvenuto, A., Boscaini, F., Canetta, E., Cangini, A., Conti, S., Curatolo, P., Bernardina, B. D., Da Ros, L. & 39 others, De Giacomo, A., Distefano, G., Di Stefano, M. L., Di Vita, G., Elia, M., Gitti, F., Grittani, S., Lafortezza, M., Lamanna, A. L., Mani, E., Manzi, B., Margari, L., Marino, M., Masi, G., Molteni, M., Muglia, P., Nardocci, F., Parmeggiani, A., Pascotto, A., Patrini, M., Pias, P., Piroddi, T., Poledri, S., Polizzi, M., Porfirio, M. C., Posar, A., Riccio, M. P., Russo, S., Santocchi, E., Santucci, M., Scifo, R., Tancredi, R., Tedde, M. R., Tiberti, A., Valli, A., Dri, V. V., Zanni, R., Zoccante, L. & Zuddas, A., Oct 1 2014, In : Molecular and Cellular Probes. 28, 5-6, p. 242-245 4 p.

Research output: Contribution to journalArticle

Autistic Disorder
Gene Expression
Cell Line
Genes
Down-Regulation

Neuropsychological implications of adjunctive levetiracetam in childhood epilepsy

Posar, A., Salerno, G., Monti, M., Santucci, M., Scaduto, M. & Parmeggiani, A., Jul 1 2014, In : Journal of Pediatric Neurosciences. 9, 2, p. 115-120 6 p.

Research output: Contribution to journalArticle

etiracetam
Epilepsy
Seizures
Electroencephalography

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Romani, M., Mancini, F., Micalizzi, A., Poretti, A., Miccinilli, E., Accorsi, P., Avola, E., Bertini, E., Borgatti, R., Romaniello, R., Ceylaner, S., Coppola, G., D’Arrigo, S., Giordano, L., Janecke, A. R., Lituania, M., Ludwig, K., Martorell, L., Mazza, T., Odent, S. & 13 others, Pinelli, L., Poo, P., Santucci, M., Signorini, S., Simonati, A., Spiegel, R., Stanzial, F., Steinlin, M., Tabarki, B., Wolf, N. I., Zibordi, F., Boltshauser, E. & Valente, E. M., 2014, In : Human Genetics. 134, 1, p. 123-126 4 p.

Research output: Contribution to journalArticle

Genes
Polydactyly
Phenotype
Mutation
Hamartoma
Protein Deficiency
Facilitative Glucose Transport Proteins
Movement Disorders
Ataxia
Phenotype
2013

Fenotipo epilettico associato a microdelezione 16p11.2: Descrizione di un caso

Translated title of the contribution: Epileptic phenotype associated with a 16p11.2 microdeletion: Description of a caseAldrovandi, A., Posar, A. & Santucci, M., Apr 2013, In : Bollettino - Lega Italiana contro l'Epilessia. 145, p. 178-180 3 p.

Research output: Contribution to journalArticle

Comparative Genomic Hybridization
Intellectual Disability
Epilepsy
Seizures
Phenotype

Variabilità fenotipica delle mutazioni del gene SCN1A: Descrizione di un caso clinico

Translated title of the contribution: Phenotipic variability of SCN1A mutations: Case reportVergaro, R., Conti, S., Scaduto, M. C. & Santucci, M., Apr 2013, In : Bollettino - Lega Italiana contro l'Epilessia. 145, p. 221-223 3 p.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Seizures
Mutation
Phenotype
Absence Epilepsy
2012

Breathing instability in Joubert syndrome

Fabbri, M., Vetrugno, R., Provini, F., Bosi, M. & Santucci, M., Jan 2012, In : Movement Disorders. 27, 1, p. 64 1 p.

Research output: Contribution to journalArticle

Difficoltà di inquadramento sindromico di una epilessia focale non sintomatica con punte-onda occipitali

Translated title of the contribution: Non symptomatic focal epilepsy with occipital spikes and waves: Troubles in syndromic classificationConti, S., Santucci, M., Posar, A., Alvisi, L. & Tinuper, P., May 2012, In : Bollettino - Lega Italiana contro l'Epilessia. 144, p. 149-153 5 p.

Research output: Contribution to journalArticle

Partial Epilepsy
Seizures
Epilepsy
Therapeutics

Seizures and EEG patterns in Pallister-Killian syndrome: 13 New Italian patients

Giordano, L., Viri, M., Borgatti, R., Lodi, M., Accorsi, P., Faravelli, F., Ferretti, M. C., Grasso, R., Memo, L., Prola, S., Pruna, D., Santucci, M., Savasta, S., Verrotti, A. & Romeo, A., Nov 2012, In : European Journal of Paediatric Neurology. 16, 6, p. 636-641 6 p.

Research output: Contribution to journalArticle

Electroencephalography
Seizures
Spasm
Epilepsy
Phenotype

The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families

Prandini, P., Pasquali, A., Malerba, G., Marostica, A., Zusi, C., Xumerle, L., Muglia, P., Da Ros, L., Ratti, E., Trabetti, E., Pignatti, P. F., Allibrio, G., Amato, M. C., Anchisi, L., Andruccioli, M., Battistella, P. A., Benedetti, S., Benvenuto, A., Boscaini, F., Canetta, E. & 42 others, Cangini, A., Conti, S., Curatolo, P., Dalla Bernardina, B., De Giacomo, A., Distefano, G., Di Stefano, M. L., Di Vita, G., Elia, M., Gitti, F., Grittani, S., Lafortezza, M., Lamanna, A. L., Mani, E., Manzi, B., Margari, L., Marino, M., Masi, G., Molteni, M., Nardocci, F., Parmeggiani, A., Pascotto, A., Patrini, M., Pias, P., Piroddi, T., Poledri, S., Polizzi, M., Porfirio, M. C., Posar, A., Riccio, M. P., Russo, S., Santocchi, E., Santucci, M., Scifo, R., Tancredi, R., Tedde, M. R., Tiberti, A., Valli, A., Dri, V. V., Zanni, R., Zoccante, L. & Zuddas, A., Aug 1 2012, In : Psychiatric Genetics. 22, 4, p. 177-181 5 p.

Research output: Contribution to journalArticle

Genes
Alleles
Odds Ratio
Viverridae
Genetic Association Studies
2011

Epilessia nella Sindrome di Pallister-Killian: Descrizione di un nuovo caso

Translated title of the contribution: Epilepsy in Pallister-Killian syndrome: A report of a new caseVergaro, R., Pellicciari, A., Bernardi, B. & Santucci, M., Apr 2011, In : Bollettino - Lega Italiana contro l'Epilessia. 142, p. 160-162 3 p.

Research output: Contribution to journalArticle

Epilepsy
Isochromosomes
Inborn Genetic Diseases
Seizures
Fibroblasts

Gli effetti cognitivi del levetiracetam in età evolutiva

Translated title of the contribution: Cognitive effects of levetiracetam in childhoodMonti, M., Salerno, G. G., Montanari, M., Posar, A., Scaduto, M. C., Santucci, M. & Parmeggiani, A., Apr 2011, In : Bollettino - Lega Italiana contro l'Epilessia. 142, p. 173-175 3 p.

Research output: Contribution to journalArticle

etiracetam
Cognition
Seizures
Generalized Epilepsy
Partial Epilepsy

MRI findings in patients with clinical onset consistent with Infantile Neuroaxonal Dystrophy (INAD), literature review, clinical and MRI follow-up

Bernardi, B., Pini, A., Santucci, M., Cenacchi, C., Garavaglia, B., Ucchino, V., Garrone, C., Guerra, A., Faggioli, R., Barzaghi, C., Preda, P., Franzoni, E., Gobbi, G. & Parmeggiani, A., Apr 2011, In : Neuroradiology Journal. 24, 2, p. 202-214 13 p.

Research output: Contribution to journalArticle

Neuroaxonal Dystrophies
Magnetic Resonance Spectroscopy
Mutation
Genotype
Muscle Hypotonia

Prevalenza di cefalea primaria in pazienti con epilessia

Translated title of the contribution: Prevalence of primary headache in patients with epilepsyDainese, F., La Neve, A., Francavilla, T., Belcastro, V., Siliquini, S., Santucci, M., Broli, M., Pescini, F., Chiocchetti, B., Tozzi, E. & Paladin, F., Apr 2011, In : Bollettino - Lega Italiana contro l'Epilessia. 142, p. 219-221 3 p.

Research output: Contribution to journalArticle

Headache
Epilepsy
Migraine Disorders
Population
Tension-Type Headache
2010

Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders

Parmeggiani, A., Barcia, G., Posar, A., Raimondi, E., Santucci, M. & Scaduto, M. C., Oct 2010, In : Brain and Development. 32, 9, p. 783-789 7 p.

Research output: Contribution to journalArticle

Electroencephalography
Epilepsy
Autistic Disorder
Febrile Seizures
Seizures

Variabilità clinico-elettroencefalografica in pazienti con malformazione dello sviluppo corticale tipo polimicrogiria bilaterale

Translated title of the contribution: Electroclinical variability in patients with cortical malformation like bilateral polymicrogyriaTedde, M. R., Errani, A., Bernardi, B., Scaduto, M. C., Posar, A. & Santucci, M., Apr 2010, In : Bollettino - Lega Italiana contro l'Epilessia. 140, p. 162-163 2 p.

Research output: Contribution to journalArticle

Electroencephalography
Epilepsy
Sleep
Seizures
Status Epilepticus
2009

Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation

Parmeggiani, A., Tedde, M. R., Arbizzani, A., Posar, A., Scaduto, M. C., Santucci, M. & Sangiorgi, S., 2009, In : Journal of Child Neurology. 24, 6, p. 772-774 3 p.

Research output: Contribution to journalArticle

Methyl-CpG-Binding Protein 2
Intellectual Disability
Mutation
Genes
Rett Syndrome

Prognostic factors in patients with mesial temporal lobe epilepsy

Pittau, F., Bisulli, F., Mai, R., Fares, J. E., Vignatelli, L., Labate, A., Naldi, I., Avoni, P., Parmeggiani, A., Santucci, M., Capannelli, D., Di Vito, L., Gambardella, A., Baruzzi, A. & Tinuper, P., Jan 2009, In : Epilepsia. 50, SUPPL. 1, p. 41-44 4 p.

Research output: Contribution to journalArticle

Temporal Lobe Epilepsy
Febrile Seizures
Sclerosis
Age of Onset
Drug Resistance

Sleep-related hypermotor seizures in aspartylglucosaminuria: A case report

Ambrosetto, G. & Santucci, M., Jun 2009, In : Epilepsia. 50, 6, p. 1638-1640 3 p.

Research output: Contribution to journalArticle

Aspartylglucosaminuria
Sleep
Seizures
Epilepsy
Motor Activity
2008

Autism and coeliac disease

Barcia, G., Posar, A., Santucci, M. & Parmeggiani, A., Feb 2008, In : Journal of Autism and Developmental Disorders. 38, 2, p. 407-408 2 p.

Research output: Contribution to journalArticle

Epilessia ed anomalie epilettiformi EEG in una casistica di pazienti affette da Sindrome di Rett

Translated title of the contribution: Epilepsy and EEG abnormalities in a series of patients affected by Rett SyndromeBarcia, G., Salerno, G. G., Sangiorgi, S., Posar, A., Scaduto, M. C., Ambrosetto, G., Arbizzani, A. & Santucci, M., 2008, In : Bollettino - Lega Italiana contro l'Epilessia. 138, p. 93-95 3 p.

Research output: Contribution to journalArticle

Rett Syndrome
Electroencephalography
Epilepsy
Mutation
Genes

Epilessia occipitale benigna dell'infanzia ad esordio precoce con marcata attivazione delle anomalie epilettiformi EEG in sonno e aspetti neuropsicologici: Descrizione di 4 casi

Translated title of the contribution: Early onset benign childhood occipital epilepsy with a marked activation of EEG epileptic discharges during sleep and neuropsychological features: Description of 4 casesBarcia, G., Scaduto, M. C., Posar, A., Giordano, V., Gaiba, G. & Santucci, M., May 2008, In : Bollettino - Lega Italiana contro l'Epilessia. 136-137, p. 89-91 3 p.

Research output: Contribution to journalArticle

Partial Epilepsy
Electroencephalography
Sleep
Rolandic Epilepsy
Seizures

Variabilità clinica, in particolare riguardo all'epilessia, in pazienti affetti da Sindrome di Angelman con differenti anomalie genetiche nella regione 15q11-q13

Translated title of the contribution: The clinical Angelman Syndrome phenotype spectrum, with particular attention to the epilepsy, in patients with different genetic abnormalities at the 15q11-q13 regionArbizzani, A., Scaduto, M. C., Posar, A., Barcia, G., Sangiorgi, S. & Santucci, M., 2008, In : Bollettino - Lega Italiana contro l'Epilessia. 138, p. 89-91 3 p.

Research output: Contribution to journalArticle

Angelman Syndrome
Epilepsy
Phenotype
Uridine Diphosphate
Electroencephalography
2007

Epilepsy in patients with pervasive developmental disorder not otherwise specified

Parmeggiani, A., Posar, A., Antolini, C., Scaduto, C. M., Santucci, M. & Giovanardi-Rossi, P., Oct 2007, In : Journal of Child Neurology. 22, 10, p. 1198-1203 6 p.

Research output: Contribution to journalArticle

Epilepsy
Autistic Disorder
Electroencephalography
Seizures
Inborn Genetic Diseases
2006

Delezione 22q13 e POCS

Translated title of the contribution: 22q13 deletion and CSWSArbizzani, A., Giana, G., Santucci, M., Posar, A., Sangiorgi, S. & Parmeggiani, A., Jul 2006, In : Bollettino - Lega Italiana contro l'Epilessia. 133-134, p. 23-24 2 p.

Research output: Contribution to journalArticle

Sleep
Language Development Disorders
Electroencephalography

Disturbi dell'apprendimento, epilessia e punte-onda continue nel sonno

Translated title of the contribution: Learning disorders, epilepsy and continuous spike-waves during slow sleepParmeggiani, A., Posar, A., Santucci, M. & L'Erario, I., Jul 2006, In : Bollettino - Lega Italiana contro l'Epilessia. 133-134, p. 35-36 2 p.

Research output: Contribution to journalArticle

Learning Disorders
Epilepsy
Sleep
Electroencephalography
Phenotype

Encefalopatia epilettica e Sindrome di Down: Descrizione di due casi clinici e confronto con i dati della letteratura

Translated title of the contribution: Epileptic encephalopathy and Down Syndrome: Two case reports compared with literature dataZucchini, E., l'Erario, I., Scaduto, M. C., Santucci, M. & Parmeggiani, A., Jul 2006, In : Bollettino - Lega Italiana contro l'Epilessia. 133-134, p. 185-186 2 p.

Research output: Contribution to journalArticle

Brain Diseases
Down Syndrome
Epilepsy
Intellectual Disability

Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations

Margherita Mancardi, M., Striano, P., Gennaro, E., Madia, F., Paravidino, R., Scapolan, S., Dalla Bernardina, B., Bertini, E., Bianchi, A., Capovilla, G., Darra, F., Elia, M., Freri, E., Gobbi, G., Granata, T., Guerrini, R., Pantaleoni, C., Parmeggiani, A., Romeo, A., Santucci, M. & 6 others, Vecchi, M., Veggiotti, P., Vigevano, F., Pistorio, A., Gaggero, R. & Zara, F., Oct 2006, In : Epilepsia. 47, 10, p. 1629-1635 7 p.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Febrile Seizures
Epilepsy
Mutation
Multifactorial Inheritance

Fattori prognostici in 170 pazienti con epilessia temporale mesiale (ETM)

Translated title of the contribution: Prognostic factors in patients with mesial temporal lobe epilepsy (MTLE). A preliminary studyPittau, F., Bisulli, F., Licchetta, L., Naldi, I., Avoni, P., Parmeggiani, A., Santucci, M., Fares, J. E., Mai, R., Tassi, L., Gambardella, A., Quattrone, A., Baruzzi, A. & Tinuper, P., Jul 2006, In : Bollettino - Lega Italiana contro l'Epilessia. 133-134, p. 109-110 2 p.

Research output: Contribution to journalArticle

Temporal Lobe Epilepsy
Pharmaceutical Preparations
Sclerosis
Febrile Seizures
Electroencephalography
2005

Discinesia parossistica chinesigenica ed epilessia focale: Descrizione di un caso in età evolutiva

Translated title of the contribution: Paroxysmal kinesigenic dyskinesia and focal epilepsy in childhood: A case reportMagnani, G., Santucci, M., Posar, A. & Liguori, R., 2005, In : Bollettino - Lega Italiana contro l'Epilessia. 129-130, p. 165-166 2 p.

Research output: Contribution to journalArticle

Partial Epilepsy
Epilepsy
Chorea
Movement Disorders
Differential Diagnosis

Seizure worsening caused by decreased serum valproate during meropenem therapy

Santucci, M., Parmeggiani, A. & Riva, R., May 2005, In : Journal of Child Neurology. 20, 5, p. 456-457 2 p.

Research output: Contribution to journalArticle

meropenem
Valproic Acid
Seizures
Serum
Therapeutics

Telogen effluvium caused by magnesium valproate and lamotrigine [9]

Patrizi, A., Savoia, F., Negosanti, F., Posar, A., Santucci, M. & Neri, I., 2005, In : Acta Dermato-Venereologica. 85, 1, p. 77-78 2 p.

Research output: Contribution to journalArticle

2004

Epilessia notturna del lobo frontale in un caso di aspartilglucosaminuria

Translated title of the contribution: Nocturnal frontal lobe epilepsy in a patient with aspartylglucosaminuriaSantucci, M. & Gentile, V., Jul 2004, In : Bollettino - Lega Italiana contro l'Epilessia. 125-126, p. 161-163 3 p.

Research output: Contribution to journalArticle

Aspartylglucosaminuria
Frontal Lobe Epilepsy
Lysosomal Storage Diseases
Video Recording
Electroencephalography

L'epilessia nel disturbo pervasivo dello sviluppo non altrimenti specificato

Translated title of the contribution: Epilepsy in pervasive developmental disorder not otherwise specifiedParmeggiani, A., Posar, A., Antolini, C., Scaduto, M. C., Santucci, M. & Giovanardi-Rossi, P., Jul 2004, In : Bollettino - Lega Italiana contro l'Epilessia. 125-126, p. 113-115 3 p.

Research output: Contribution to journalArticle

Inborn Genetic Diseases
Rare Diseases
Epilepsy
Seizures
Electroencephalography
2003

Apnea critica in sonno nella Sindrome di Rett: Studio poligrafico di un caso

Translated title of the contribution: Sleep related ictal apnea in Rett Syndrome: Polygraphic study of a caseSantucci, M., Bertin, C., Scano, C. & Ambrosetto, G., Jul 2003, In : Bollettino - Lega Italiana contro l'Epilessia. 121-122, p. 239-241 3 p.

Research output: Contribution to journalArticle

Rett Syndrome
Wakefulness
Apnea
Sleep
Respiration

Diverso fenotipo epilettico in due casi di Sindrome di Rett con identica mutazione del gene MECP2

Translated title of the contribution: Different epileptic phenotype in two cases with Rett Syndrome and the same mutation of MECP2 geneCassetti, A., Posar, A., Sangiorgi, S., Belmonte, S. & Santucci, M., Jul 2003, In : Bollettino - Lega Italiana contro l'Epilessia. 121-122, p. 243-245 3 p.

Research output: Contribution to journalArticle

Rett Syndrome
Phenotype
Mutation
Genes
X Chromosome Inactivation

No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy

Madia, F., Gennaro, E., Cecconi, M., Buti, D., Capovilla, G., Dalla Bernardina, B., Elia, M., Ferrari, A., Fontana, E., Gaggero, R., Giannotta, M., Giordano, L., Granata, T., La Selva, L., Lispi, M. L., Santucci, M., Vanadia, F., Veggiotti, P., Vigliano, P., Viri, M. & 3 others, Dagna Bricarelli, F., Bianchi, A. & Zara, F., Mar 1 2003, In : Epilepsy Research. 53, 3, p. 196-200 5 p.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Mutation
Genes
Voltage-Gated Sodium Channels
GABA-A Receptors
2002

Early-onset absence epilepsy and paroxysmal dyskinesia

Guerrini, R., Sanchez-Carpintero, R., Deonna, T., Santucci, M., Bhatia, K. P., Moreno, T., Parmeggiani, L. & Dalla Bernardina, B., Oct 1 2002, In : Epilepsia. 43, 10, p. 1224-1229 6 p.

Research output: Contribution to journalArticle

Absence Epilepsy
Chorea
Siblings
Epilepsy
Ethosuximide

Epilessia e cromosomopatie: Aspetti clinici ed EEG

Translated title of the contribution: Epilepsy and chromosomal abnormalities: Clinical and EEG findingsParmeggiani, A., Giovannini, S., Posar, A., Santucci, M. & Giovanardi-Rossi, P., Oct 2002, In : Bollettino - Lega Italiana contro l'Epilessia. 118, p. 73-75 3 p.

Research output: Contribution to journalArticle

Chromosome Aberrations
Electroencephalography
Epilepsy
Generalized Epilepsy
Intellectual Disability

Epilessia nella sindrome di Rett: Caratteristiche in relazione con la mutazione del gene MECP2

Translated title of the contribution: Rett syndrome: Epilepsy characteristics in correlation with the MECP2 mutationSantucci, M., Cecconi, I., Ambrosetto, G., Sangiorgi, S., Posar, A., Belmonte, S., Bertin, C., Pirri, B. & Giovanardi-Rossi, P., Oct 2002, In : Bollettino - Lega Italiana contro l'Epilessia. 118, p. 55-58 4 p.

Research output: Contribution to journalArticle

Rett Syndrome
Epilepsy
Mutation
Missense Mutation
Genes