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Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study
Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study
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Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study

May, Patrick ; Girard, Simon ; Harrer, Merle ; Bobbili, Dheeraj R ; Schubert, Julian ; Wolking, Stefan ; Becker, Felicitas ; Lachance-Touchette, Pamela ; Meloche, Caroline ; Gravel, Micheline ; Niturad, Cristina E ; Knaus, Julia ; De Kovel, Carolien ; Toliat, Mohamad ; Polvi, Anne ; Iacomino, Michele ; Guerrero-López, Rosa ; Baulac, Stéphanie ; Marini, Carla ; Thiele, Holger ; Altmüller, Janine ; Jabbari, Kamel ; Ruppert, Ann-Kathrin ; Jurkowski, Wiktor ; Lal, Dennis ; Rusconi, Raffaella ; Cestèle, Sandrine ; Terragni, Benedetta ; Coombs, Ian D ; Reid, Christopher A ; Striano, Pasquale ; Caglayan, Hande ; Siren, Auli ; Everett, Kate ; Møller, Rikke S ; Hjalgrim, Helle ; Muhle, Hiltrud ; Helbig, Ingo ; Kunz, Wolfram S ; Weber, Yvonne G ; Weckhuysen, Sarah ; Jonghe, Peter De ; Sisodiya, Sanjay M ; Nabbout, Rima ; Franceschetti, Silvana ; Coppola, Antonietta ; Vari, Maria S ; Kasteleijn-Nolst Trenité, Dorothée ; Baykan, Betul ; Ozbek, Ugur ; Bebek, Nerses ; Klein, Karl M ; Rosenow, Felix ; Nguyen, Dang K ; Dubeau, François ; Carmant, Lionel ; Lortie, Anne ; Desbiens, Richard ; Clément, Jean-François ; Cieuta-Walti, Cécile ; Sills, Graeme J ; Auce, Pauls ; Francis, Ben ; Johnson, Michael R ; Marson, Anthony G ; Berghuis, Bianca ; Sander, Josemir W ; Avbersek, Andreja ; McCormack, Mark ; Cavalleri, Gianpiero L ; Delanty, Norman ; Depondt, Chantal ; Krenn, Martin ; Zimprich, Fritz ; Peter, Sarah ; Nikanorova, Marina ; Kraaij, Robert ; van Rooij, Jeroen ; Balling, Rudi ; Ikram, M Arfan ; Uitterlinden, André G ; Avanzini, Giuliano ; Schorge, Stephanie ; Petrou, Steven ; Mantegazza, Massimo ; Sander, Thomas ; LeGuern, Eric ; Serratosa, Jose M ; Koeleman, Bobby P C ; Palotie, Aarno ; Lehesjoki, Anna-Elina ; Nothnagel, Michael ; Nürnberg, Peter ; Maljevic, Snezana ; Zara, Federico ; Cossette, Patrick ; Krause, Roland ; Lerche, Holger

Lancet neurology, 2018-08, Vol.17 (8), p.699 [Periódico revisado por pares]

England: Elsevier Limited

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2
The perceived burden of epilepsy: Impact on the quality of life of children and adolescents and their families
The perceived burden of epilepsy: Impact on the quality of life of children and adolescents and their families
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The perceived burden of epilepsy: Impact on the quality of life of children and adolescents and their families

Cianchetti, Carlo ; Messina, Paolo ; Pupillo, Elisabetta ; Crichiutti, Giovanni ; Baglietto, Maria Giuseppina ; Veggiotti, Pierangelo ; Zamponi, Nelia ; Casellato, Susanna ; Margari, Lucia ; Erba, Giuseppe ; Beghi, Ettore

Seizure (London, England), 2015-01, Vol.24, p.93-101 [Periódico revisado por pares]

England: Elsevier Ltd

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3
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients
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Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients

Balagura, Ganna ; Riva, Antonella ; Marchese, Francesca ; Iacomino, Michele ; Madia, Francesca ; Giacomini, Thea ; Mancardi, Maria Margherita ; Amadori, Elisabetta ; Vari, Maria Stella ; Salpietro, Vincenzo ; Russo, Angelo ; Messana, Tullio ; Vignoli, Aglaia ; Chiesa, Valentina ; Giordano, Lucio ; Accorsi, Patrizia ; Caffi, Lorella ; Orsini, Alessandro ; Bonuccelli, Alice ; Santucci, Margherita ; Vecchi, Marilena ; Vanadia, Francesca ; Milito, Giuseppe ; Fusco, Carlo ; Cricchiutti, Giovanni ; Carpentieri, Marilisa ; Margari, Lucia ; Spalice, Alberto ; Beccaria, Francesca ; Benfenati, Fabio ; Zara, Federico ; Striano, Pasquale

European journal of paediatric neurology, 2020-09, Vol.28, p.193-197 [Periódico revisado por pares]

England: Elsevier Ltd

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4
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort
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Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort

Falsaperla, Raffaele ; Vari, Maria Stella ; Toldo, Irene ; Murgia, Alessandra ; Sartori, Stefano ; Vecchi, Marilena ; Suppiej, Agnese ; Burlina, Alberto ; Mastrangelo, Mario ; Leuzzi, Vincenzo ; Marchiani, Valentina ; De Liso, Paola ; Capovilla, Giuseppe ; Striano, Pasquale ; Vitaliti, Giovanna

Metabolic brain disease, 2018-02, Vol.33 (1), p.261-269 [Periódico revisado por pares]

New York: Springer US

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5
Satisfaction with antiepileptic drugs in children and adolescents with newly diagnosed and chronic epilepsy
Satisfaction with antiepileptic drugs in children and adolescents with newly diagnosed and chronic epilepsy
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Satisfaction with antiepileptic drugs in children and adolescents with newly diagnosed and chronic epilepsy

Beghi, Ettore ; Messina, Paolo ; Pupillo, Elisabetta ; Crichiutti, Giovanni ; Baglietto, Maria Giuseppina ; Veggiotti, Pierangelo ; Zamponi, Nelia ; Casellato, Susanna ; Margari, Lucia ; Cianchetti, Carlo

Epilepsy research, 2012-06, Vol.100 (1), p.142-151 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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