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index medicus (26) 26
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1. Full Text Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
by Crow, Y.J and Chase, D.S and Schmidt, J.L and Szynkiewicz, M and Forte, G.M.A and Gornall, H.L and Oojageer, A and Anderson, B and Pizzino, A and Helman, G and Abdel-Hamid, M.S and Abdel-Salam, G.M and Ackroyd, S and Aeby, A and Agosta, G and Albin, C and Allon-Shalev, S and Arellano, M and Ariaudo, G and Aswani, V and Babul-Hirji, R and Baildam, E.M and Bahi-Buisson, N and Bailey, K.M and Barnerias, C and Barth, M and Battini, R and Beresford, M.W and Bernard, G and Bianchi, M and de Villemeur, T.B and Blair, E.M and Bloom, M and Burlina, A.B and Carpanelli, M.L and Carvalho, D.R and Castro-Gago, M and Cavallini, A and Cereda, C and Chandler, K.E and Chitayat, D.A and Collins, A.E and Corcoles, C.S and Cordeiro, N.J.V and Crichiutti, G and Dabydeen, L and Dale, R.C and D'Arrigo, S and De Goede, C.G.E.L and de Laet, C and De Waele, L.M.H and Denzler, I and Desguerre, I and Devriendt, K and Di Rocco, M and Fahey, M.C and Fazzi, E and Ferrie, C.D and Figueiredo, A and Gener, B and Goizet, C and Gowrinathan, N.R and Gowrishankar, K and Hanrahan, D and Isidor, B and Kara, L and Khan, N and King, M.D and Kirk, E.P and Kumar, R and Lagae, L and Lanieu, P and Lauffer, H and Laugel, V and La Piana, R and Lim, M.J and Lin, J.P.S.M and Linnankivi, T and Mackay, M.T and Marom, D.R and Lourenco, C.M and McKee, S.A and Moroni, I and Morton, J.E.V and Moutard, M.L and Murray, K and Nabbout, R and Nampoothiri, S and Nunez-Enamorado, N and Oades, P.J and Olivieri, I and Ostergaard, J.R and Perez-Duenas, B and Prendiville, J.S and Ramesh, V and Rasmussen, M and Regal, L and Ricci, F and Rio, M and Knaap, M and ...
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2015, Volume 167, Issue 2, pp. 296 - 312
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We... 
spastic paraparesis | type I interferon | bilateral striatal necrosis | interferon signature | Aicardi–Goutières syndrome | Interferon signature | Bilateral striatal necrosis | Spastic paraparesis | Type I interferon | Aicardi-Goutières syndrome | SYSTEMIC-LUPUS-ERYTHEMATOSUS | BASAL GANGLIA | ENCEPHALOPATHY | AICARDI-GOUTIERES-SYNDROME | INTERFERON-ALPHA | GENE | Aicardi-Goutieres syndrome | DNA EXONUCLEASE TREX1 | GENETICS & HEREDITY | CLASSIFICATION-SYSTEM | VASCULOPATHY | CALCIFICATIONS | Interferons - cerebrospinal fluid | Genetic Association Studies | Adenosine Deaminase - genetics | Humans | SAM Domain and HD Domain-Containing Protein 1 | Genotype | Monomeric GTP-Binding Proteins - genetics | Phosphoproteins - genetics | Pterins - cerebrospinal fluid | Interferon-Induced Helicase, IFIH1 | DEAD-box RNA Helicases - genetics | Phenotype | Interferons - blood | Autoimmune Diseases of the Nervous System - genetics | Nervous System Malformations - diagnosis | Exodeoxyribonucleases - genetics | Mutation | Nervous System Malformations - genetics | Autoimmune Diseases of the Nervous System - diagnosis | Ribonuclease H - genetics | Glaucoma | Mortality | Skin diseases | Genetic aspects | Hypothyroidism | Biological response modifiers
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2. Full Text Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
by Steffens, Michael and Leu, Costin and Ruppert, Ann-Kathrin and Zara, Federico and Striano, Pasquale and Robbiano, Angela and Capovilla, Giuseppe and Tinuper, Paolo and Gambardella, Antonio and Bianchi, Amedeo and La neve, Angela and Crichiutti, Giovanni and de kovel, Carolien G.F and Trenité, Dorothée Kasteleijn-Nolst and de haan, Gerrit-Jan and Lindhout, Dick and Gaus, Verena and Schmitz, Bettina and Janz, Dieter and Weber, Yvonne G and Becker, Felicitas and Lerche, Holger and Steinhoff, Bernhard J and Kleefuß-Lie, Ailing A and Kunz, Wolfram S and Surges, Rainer and Elger, Christian E and Muhle, Hiltrud and Von spiczak, Sarah and Ostertag, Philipp and Helbig, Ingo and Stephani, Ulrich and Møller, Rikke S and Hjalgrim, Helle and Dibbens, Leanne M and Bellows, Susannah and Oliver, Karen and Mullen, Saul and Scheffer, Ingrid E and Berkovic, Samuel F and Everett, Kate V and Gardiner, Mark R and Marini, Carla and Guerrini, Renzo and Lehesjoki, Anna-Elina and Siren, Auli and Guipponi, Michel and Malafosse, Alain and Thomas, Pierre and Nabbout, Rima and Baulac, Stephanie and Leguern, Eric and Guerrero, Rosa and Serratosa, Jose M and Reif, Philipp S and Rosenow, Felix and Mörzinger, Martina and Feucht, Martha and Zimprich, Fritz and Kapser, Claudia and Schankin, Christoph J and Suls, Arvid and Smets, Katrin and De jonghe, Peter and Jordanova, Albena and Caglayan, Hande and Yapici, Zuhal and Yalcin, Destina A and Baykan, Betul and Bebek, Nerses and Ozbek, Ugur and Gieger, Christian and Wichmann, Heinz-Erich and Balschun, Tobias and Ellinghaus, David and Franke, Andre and Meesters, Christian and Becker, Tim and Wienker, Thomas F and Hempelmann, Anne and Schulz, Herbert and Rüschendorf, Franz and Leber, Markus and Pauck, Steffen M and Trucks, Holger and Toliat, Mohammad R and Nürnberg, Peter and Avanzini, Giuliano and Koeleman, Bobby P.C and Sander, Thomas and Weckhuysen, Sarah and Claes, Lieve and Deprez, Liesbet and Van Dyck, Tine and Deconinck, Tine and Velizarova, Reana and Dimova, Petya and Radionova, Melania and Tournev, Ivaylo and Kancheva, Dahlia and ... and EMINET Consortium and EPICURE Consortium and EMINet Consortium
Human Molecular Genetics, ISSN 0964-6906, 12/2012, Volume 21, Issue 24, pp. 5359 - 5372
Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3 and account for 2030 of all epilepsies. Despite their high heritability of 80, the... 
VISUALIZATION | INDEPENDENT TESTS | REPLICATION | JUVENILE MYOCLONIC EPILEPSY | MICRODELETIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | ARCHITECTURE | RISK | MECHANISMS | MUTATIONS | SEIZURE TYPES | Epilepsy, Generalized - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Humans | NAV1.1 Voltage-Gated Sodium Channel - genetics | Protein-Serine-Threonine Kinases - genetics | Epilepsy, Absence - genetics | Repressor Proteins - genetics | Receptor, Muscarinic M3 - genetics | Zinc Finger E-box Binding Homeobox 2 | Homeodomain Proteins - genetics | Myoclonic Epilepsy, Juvenile - genetics | Alleles
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3. Full Text The landscape of epilepsy-related GATOR1 variants
by Baldassari, Sara and Picard, Fabienne and Verbeek, Nienke E and van Kempen, Marjan and Brilstra, Eva H and Lesca, Gaetan and Conti, Valerio and Guerrini, Renzo and Bisulli, Francesca and Licchetta, Laura and Pippucci, Tommaso and Tinuper, Paolo and Hirsch, Edouard and de Saint Martin, Anne and Chelly, Jamel and Rudolf, Gabrielle and Chipaux, Mathilde and Ferrand-Sorbets, Sarah and Dorfmüller, Georg and Sisodiya, Sanjay and Balestrini, Simona and Schoeler, Natasha and Hernandez-Hernandez, Laura and Krithika, S and Oegema, Renske and Hagebeuk, Eveline and Gunning, Boudewijn and Deckers, Charles and Berghuis, Bianca and Wegner, Ilse and Niks, Erik and Jansen, Floor E and Braun, Kees and de Jong, Daniëlle and Rubboli, Guido and Talvik, Inga and Sander, Valentin and Uldall, Peter and Jacquemont, Marie-Line and Nava, Caroline and Leguern, Eric and Julia, Sophie and Gambardella, Antonio and d’Orsi, Giuseppe and Crichiutti, Giovanni and Faivre, Laurence and Darmency, Veronique and Benova, Barbora and Krsek, Pavel and Biraben, Arnaud and Lebre, Anne-Sophie and Jennesson, Mélanie and Sattar, Shifteh and Marchal, Cécile and Nordli, Douglas R and Lindstrom, Kristin and Striano, Pasquale and Lomax, Lysa Boissé and Kiss, Courtney and Bartolomei, Fabrice and Lepine, Anne Fabienne and Schoonjans, An-Sofie and Stouffs, Katrien and Jansen, Anna and Panagiotakaki, Eleni and Ricard-Mousnier, Brigitte and Thevenon, Julien and de Bellescize, Julitta and Catenoix, Hélène and Dorn, Thomas and Zenker, Martin and Müller-Schlüter, Karen and Brandt, Christian and Krey, Ilona and Polster, Tilman and Wolff, Markus and Balci, Meral and Rostasy, Kevin and Achaz, Guillaume and Zacher, Pia and Becher, Thomas and Cloppenborg, Thomas and Yuskaitis, Christopher J and Weckhuysen, Sarah and Poduri, Annapurna and Lemke, Johannes R and Møller, Rikke S and Baulac, Stéphanie
Genetics in Medicine, ISSN 1098-3600, 02/2019, Volume 21, Issue 2, pp. 398 - 408
Purpose: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative... 
Genetic focal epilepsy | mTORC1 pathway | Focal cortical dysplasia | SUDEP | DEPDC5 | FAMILIAL FOCAL EPILEPSY | MAMMALIAN TARGET | CORTICAL DYSPLASIA | COMPLEX | DEPDC5 MUTATIONS | MODEL | SUDDEN UNEXPECTED DEATH | GTPASES | GENETICS | GENES | GENETICS & HEREDITY | Life Sciences | Genetics | Human genetics | focal cortical dysplasia | genetic focal epilepsy
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4. Full Text Recurrent seizures during acute acquired toxoplasmosis in an immunocompetent traveller returning from Africa
by Beltrame, Anna and Beltrame, Anna and Venturini, Sergio and Venturini, Sergio and Crichiutti, Giovanni and Crichiutti, Giovanni and Meroni, Valeria and Meroni, Valeria and Buonfrate, Dora and Buonfrate, Dora and Bassetti, Matteo and Bassetti, Matteo
Infection, ISSN 0300-8126, 4/2016, Volume 44, Issue 2, pp. 259 - 262
We report an unusual case of acute acquired toxoplasmosis (AAT) presenting as lymphadenopathy and recurrent seizures in an immunocompetent 15-year-old boy.The... 
Travel | Toxoplasma gondii | Medicine & Public Health | General Practice / Family Medicine | Infectious Diseases | Internal Medicine | Seizure | Immunocompetent | Acute acquired toxoplasmosis | INFECTIOUS DISEASES | GONDII | Toxoplasma - immunology | Recurrence | Immunoglobulin G - blood | Humans | Sulfadiazine - therapeutic use | Male | Antibodies, Protozoan - blood | Seizures - pathology | Toxoplasmosis - complications | Leucovorin - therapeutic use | Valproic Acid - therapeutic use | Pyrimethamine - therapeutic use | Anticonvulsants - therapeutic use | Toxoplasmosis - diagnosis | Seizures - diagnosis | Treatment Outcome | Epilepsy - complications | Epilepsy - diagnosis | Toxoplasmosis - pathology | Immunoglobulin M - blood | Adolescent | Antiprotozoal Agents - therapeutic use | Epilepsy - pathology | Ethiopia | Complications and side effects | Care and treatment | Seizures (Medicine) | Research | Toxoplasmosis | Risk factors
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5. Full Text Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study
by May, Patrick and Girard, Simon and Harrer, Merle and Bobbili, Dheeraj R and Schubert, Julian and Wolking, Stefan and Becker, Felicitas and Lachance-Touchette, Pamela and Meloche, Caroline and Gravel, Micheline and Niturad, Cristina E and Knaus, Julia and De Kovel, Carolien and Toliat, Mohamad and Polvi, Anne and Iacomino, Michele and Guerrero-López, Rosa and Baulac, Stéphanie and Marini, Carla and Thiele, Holger and Altmüller, Janine and Jabbari, Kamel and Ruppert, Ann-Kathrin and Jurkowski, Wiktor and Lal, Dennis and Rusconi, Raffaella and Cestèle, Sandrine and Terragni, Benedetta and Coombs, Ian D and Reid, Christopher A and Striano, Pasquale and Caglayan, Hande and Siren, Auli and Everett, Kate and Møller, Rikke S and Hjalgrim, Helle and Muhle, Hiltrud and Helbig, Ingo and Kunz, Wolfram S and Weber, Yvonne G and Weckhuysen, Sarah and Jonghe, Peter De and Sisodiya, Sanjay M and Nabbout, Rima and Franceschetti, Silvana and Coppola, Antonietta and Vari, Maria S and Kasteleijn-Nolst Trenité, Dorothée and Baykan, Betul and Ozbek, Ugur and Bebek, Nerses and Klein, Karl M and Rosenow, Felix and Nguyen, Dang K and Dubeau, François and Carmant, Lionel and Lortie, Anne and Desbiens, Richard and Clément, Jean-François and Cieuta-Walti, Cécile and Sills, Graeme J and Auce, Pauls and Francis, Ben and Johnson, Michael R and Marson, Anthony G and Berghuis, Bianca and Sander, Josemir W and Avbersek, Andreja and McCormack, Mark and Cavalleri, Gianpiero L and Delanty, Norman and Depondt, Chantal and Krenn, Martin and Zimprich, Fritz and Peter, Sarah and Nikanorova, Marina and Kraaij, Robert and van Rooij, Jeroen and Balling, Rudi and Ikram, M Arfan and Uitterlinden, André G and Avanzini, Giuliano and Schorge, Stephanie and Petrou, Steven and Mantegazza, Massimo and Sander, Thomas and LeGuern, Eric and Serratosa, Jose M and Koeleman, Bobby P C and Palotie, Aarno and Lehesjoki, Anna-Elina and Nothnagel, Michael and Nürnberg, Peter and Maljevic, Snezana and Zara, Federico and Cossette, Patrick and Krause, Roland and Lerche, Holger and De Jonghe, Peter and Arfan Ikram, M and ... and Epicure Consortium and EpiPGX Consortium and EuroEPINOMICS COGIE Consortium and EuroEPINOMICS CoGIE Consortium
The Lancet Neurology, ISSN 1474-4422, 08/2018, Volume 17, Issue 8, pp. 699 - 708
Background: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the... 
15Q13.3 MICRODELETIONS | ASSOCIATION ANALYSIS | DE-NOVO MUTATIONS | EPILEPTIC ENCEPHALOPATHIES | SEQUENCE DATA | MOUSE MODEL | RISK | GAMMA-2-SUBUNIT | FEBRILE SEIZURES | CLINICAL NEUROLOGY | ABSENCE EPILEPSY | Biomedical research | Disease | γ-Aminobutyric acid A receptors | Research & development--R&D | Epilepsy | Genomics | Genes | Genomes | Oocytes | Defects | Studies | Consortia | Genetic variance | Hypotheses | γ-Aminobutyric acid | Quality control | Replication
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6. Full Text The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2018)
by Baldassari, S and Picard, F and Verbeek, NE and van Kempen, M and Brilstra, EH and Lesca, G and Conti, V and Guerrini, R and Bisulli, F and Licchetta, L and Pippucci, T and Tinuper, P and Hirsch, E and de Saint Martin, A and Chelly, J and Rudolf, G and Chipaux, M and Ferrand-Sorbets, S and Dorfmuller, G and Sisodiya, S and Balestrini, S and Schoeler, N and Hernandez-Hernandez, L and Krithika, S and Oegema, R and Hagebeuk, E and Gunning, B and Deckers, C and Berghuis, B and Wegner, I and Niks, E and Jansen, F and Braun, K and de Jong, D and Rubboli, G and Talvik, I and Sander, V and Uldall, P and Jacquemont, ML and Nava, C and Leguern, E and Julia, S and Gambardella, A and d'Orsi, G and Crichiutti, G and Faivre, L and Darmency, V and Benova, B and Krsek, P and Biraben, A and Lebre, AS and Jennesson, M and Sattar, S and Marchal, C and Nordli, DR and Lindstrom, K and Striano, P and Lomax, LB and Kiss, C and Bartolomei, F and Lepine, AF and Schoonjans, AS and Stouffs, K and Jansen, A and Panagiotakaki, E and Ricard-Mousnier, B and Thevenon, J and de Bellescize, J and Catenoix, H and Dorn, T and Zenker, M and Muller-Schluter, K and Brandt, C and Krey, I and Polster, T and Wolff, M and Balci, M and Rostasy, K and Achaz, G and Zacher, P and Becher, T and Cloppenborg, T and Yuskaitis, CJ and Weckhuysen, S and Poduri, A and Lemke, JR and Moller, RS and Baulac, S
GENETICS IN MEDICINE, ISSN 1098-3600, 07/2019, Volume 21, Issue 7, pp. 1671 - 1671
GENETICS & HEREDITY
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7. Full Text Patterns of care of brain tumor-related epilepsy. A cohort study done in Italian Epilepsy Center
by Maschio, Marta and Beghi, Ettore and Casazza, Marina M.L and Colicchio, Gabriella and Costa, Cinzia and Banfi, Paola and Quadri, Stefano and Aloisi, Paolo and Teresa Giallonardo, Anna and Buttinelli, Carla and Pauletto, Giada and Striano, Salvatore and Salmaggi, Andrea and Terenzi, Riccardo and Daniele, Ornella and Crichiutti, Giovanni and Paladin, Francesco and Rossi, Rosario and Prato, Giulia and Vigevano, Federico and De Simone, Roberto and Ricci, Federica and Saladini, Marina and Monti, Fabrizio and Casellato, Susanna and Zanoni, Tiziano and Giannarelli, Diana and Avanzini, Giuliano and Aguglia, Umberto and BTRE Study Grp and BTRE Study Group
PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, pp. e0180470 - e0180470
Epilepsy is the most common comorbidity in patients with brain tumors. Study Aims: To define characteristics of brain tumor-related epilepsy (BTRE) patients... 
PROPHYLAXIS | IMPACT | MANAGEMENT | HOSPITAL VOLUME | EFFICACY | GLIOBLASTOMA-MULTIFORME | MULTIDISCIPLINARY SCIENCES | CANCER CARE | VOLUME-OUTCOME RELATIONSHIP | ANTIEPILEPTIC DRUG | LEVETIRACETAM | Humans | Anticonvulsants - therapeutic use | Male | Risk | Treatment Outcome | Brain Neoplasms - complications | Epilepsy - complications | Survival Analysis | Adult | Epilepsy - drug therapy | Female | Italy | Patient Care - statistics & numerical data | Retrospective Studies | Psychological aspects | Complications and side effects | Care and treatment | Brain tumors | Epilepsy | Research | Diagnosis | Risk factors | Drugs | Brain | Enzymes | Toxicity | Brain cancer | Sex | Medical records | Radiation therapy | Antiepileptic agents | Patients | Etiracetam | Angiogenesis | Side effects | Convulsions & seizures | Chemotherapy | Surgery | Quality control | Seizures | Tumors | Index Medicus
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8. Full Text Lack of pathogenic mutations in six patients with MMPSI
by De Filippo, Maria Rosaria and Rizzo, Francesca and Marchese, Giovanna and Giurato, Giorgio and Nassa, Giovanni and Ravo, Maria and Tarallo, Roberta and Pironti, Erica and Vecchi, Marilena and Crichiutti, Giovanni and Capizzi, Giorgio and Verrotti, Alberto and Weisz, Alessandro and Coppola, Giangennaro
Epilepsy Research, ISSN 0920-1211, 2013, Volume 108, Issue 2, pp. 340 - 344
Highlights • Sanger sequencing was applied in KCNT1, PLCB1, SCN1A and TBC1D24 loci. • None of the reported mutations was present in six patients with MMPEI. •... 
Neurology | TBC1D24 | Targeted re-sequencing | KCNT1 | PLCB1 | MMPSI | SCN1A | SODIUM | MIGRATING PARTIAL SEIZURES | DISORDER | POTASSIUM | INFANCY | CLINICAL NEUROLOGY | Sequence Deletion | Epilepsies, Partial - diagnosis | Humans | NAV1.1 Voltage-Gated Sodium Channel - genetics | Infant | Male | Mutation - genetics | Nerve Tissue Proteins - genetics | Phospholipase C beta - genetics | Potassium Channels - genetics | Genetic Variation | Carrier Proteins - genetics | Phenotype | Female | Epilepsies, Partial - genetics
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9. Full Text The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)
by Baldassari, S and Picard, F and Verbeek, NE and van Kempen, M and Brilstra, EH and Lesca, G and Conti, V and Guerrini, R and Bisulli, F and Licchetta, L and Pippucci, T and Tinuper, P and Hirsch, E and de Saint Martin, A and Chelly, J and Rudolf, G and Chipaux, M and Ferrand-Sorbets, S and Dorfmuller, G and Sisodiya, S and Balestrini, S and Schoeler, N and Hernandez-Hernandez, L and Krithika, S and Oegema, R and Hagebeuk, E and Gunning, B and Deckers, C and Berghuis, B and Wegner, I and Niks, EH and Jansen, FE and Braun, K and de Jong, D and Rubboli, G and Talvik, I and Sander, V and Uldall, P and Jacquemont, ML and Nava, C and Leguern, E and Julia, S and Gambardella, A and d'Orsi, G and Crichiutti, G and Faivre, L and Darmency, V and Benova, B and Krsek, P and Biraben, A and Lebre, AS and Jennesson, M and Sattar, S and Marchal, C and Nordli, DR and Lindstrom, K and Striano, P and Lomax, LB and Kiss, C and Bartolomei, F and Lepine, AF and Schoonjans, AS and Stouffs, K and Jansen, A and Panagiotakaki, E and Ricard-Mousnier, B and Thevenon, J and de Bellescize, J and Catenoix, H and Dorn, T and Zenker, M and Muller-Schluter, K and Brandt, C and Krey, I and Polster, T and Wolff, M and Balci, M and Rostasy, K and Achaz, G and Zacher, P and Becher, T and Cloppenborg, T and Yuskaitis, CJ and Weckhuysen, S and Poduri, A and Lemke, JR and Moller, RS and Baulac, S
GENETICS IN MEDICINE, ISSN 1098-3600, 08/2019, Volume 21, Issue 8, pp. 1896 - 1896
GENETICS & HEREDITY
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10. Full Text Association Between Childhood Migraine and History of Infantile Colic
by Romanello, Silvia and Spiri, Daniele and Marcuzzi, Elena and Zanin, Anna and Boizeau, Priscilla and Riviere, Simon and Vizeneux, Audrey and Moretti, Raffaella and Carbajal, Ricardo and Mercier, Jean-Christophe and Wood, Chantal and Zuccotti, Gian Vincenzo and Crichiutti, Giovanni and Alberti, Corinne and Titomanlio, Luigi
JAMA, ISSN 0098-7484, 04/2013, Volume 309, Issue 15, pp. 1607 - 1612
IMPORTANCE Infantile colic is a common cause of inconsolable crying during the first months of life and has been thought to be a pain syndrome. Migraine is a... 
TRIAL | MEDICINE, GENERAL & INTERNAL | PAIN | HEADACHE | ADOLESCENCE | PREVALENCE | CHILDREN | Medical History Taking | France - epidemiology | Prevalence | Humans | Infant | Male | Risk | Emergency Service, Hospital - statistics & numerical data | Case-Control Studies | Adolescent | Female | Italy - epidemiology | Odds Ratio | Child | Colic - epidemiology | Infant, Newborn | Migraine Disorders - epidemiology | Migraine in children | Research | Children | Migraine | Colic | Diseases | Medical research | Children & youth
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11. Full Text Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies
by Leu, Costin and de Kovel, Carolien G.F and Zara, Federico and Striano, Pasquale and Pezzella, Marianna and Robbiano, Angela and Bianchi, Amedeo and Bisulli, Francesca and Coppola, Antonietta and Giallonardo, Anna Teresa and Beccaria, Francesca and Trenité, Dorothée Kasteleijn‐Nolst and Lindhout, Dick and Gaus, Verena and Schmitz, Bettina and Janz, Dieter and Weber, Yvonne G and Becker, Felicitas and Lerche, Holger and Kleefuß‐Lie, Ailing A and Hallman, Kerstin and Kunz, Wolfram S and Elger, Christian E and Muhle, Hiltrud and Stephani, Ulrich and Møller, Rikke S and Hjalgrim, Helle and Mullen, Saul and Scheffer, Ingrid E and Berkovic, Samuel F and Everett, Kate V and Gardiner, Mark R and Marini, Carla and Guerrini, Renzo and Lehesjoki, Anna‐Elina and Siren, Auli and Nabbout, Rima and Baulac, Stephanie and Leguern, Eric and Serratosa, Jose M and Rosenow, Felix and Feucht, Martha and Unterberger, Iris and Covanis, Athanasios and Suls, Arvid and Weckhuysen, Sarah and Kaneva, Radka and Caglayan, Hande and Turkdogan, Dilsad and Baykan, Betul and Bebek, Nerses and Ozbek, Ugur and Hempelmann, Anne and Schulz, Herbert and Rüschendorf, Franz and Trucks, Holger and Nürnberg, Peter and Avanzini, Giuliano and Koeleman, Bobby P.C and Sander, Thomas and EPICURE Consortium
Epilepsia, ISSN 0013-9580, 02/2012, Volume 53, Issue 2, pp. 308 - 318
Summary Purpose:  Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of... 
Genetic generalized epilepsy | Complex inheritance | Myoclonic seizure | Absence seizure | Linkage analysis | I ERROR | CLINICAL NEUROLOGY | CHILDHOOD ABSENCE EPILEPSY | HETEROGENEITY | SEIZURES | JUVENILE MYOCLONIC EPILEPSY | FAMILIES | ARCHITECTURE | CHROMOSOME-6 | COMPLEX TRAITS | ASSOCIATION | Epilepsy, Generalized - genetics | Chromosomes, Human, Pair 13 - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Humans | Genotype | Male | Chromosome Mapping | Genetic Loci | Chromosomes, Human, Pair 2 - genetics | Phenotype | Pedigree | Family | Female | Genetic Linkage | Medical colleges | Neurosciences | Genomics | Epilepsy | Genes | Genomes | Disease susceptibility | Risk factors | Bad debts | Analysis | Medical genetics | Genetic research | Seizures (Medicine) | Medical research | Reviews | chromosome 2 | Heritability | Models | Genetic factors | Polygenic inheritance | Genotypes | Seizures | Siblings
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