F
Federico Zara
Researcher at University of Genoa
Publications - 10
Citations - 321
Federico Zara is an academic researcher from University of Genoa. The author has contributed to research in topics: Epilepsy & Carbamazepine. The author has an hindex of 7, co-authored 10 publications receiving 233 citations.
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Journal ArticleDOI
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures
Gemma L. Carvill,Jacinta M McMahon,Amy L Schneider,Matthew Zemel,Candace T. Myers,Julia Saykally,John Nguyen,Angela Robbiano,Federico Zara,Nicola Specchio,Oriano Mecarelli,R Smith,Richard J. Leventer,Rikke S. Møller,Marina Nikanorova,Petia Dimova,Albena Jordanova,Steven Petrou,Ingo Helbig,Pasquale Striano,Sarah Weckhuysen,Samuel F. Berkovic,Ingrid E. Scheffer,Heather C. Mefford +23 more
TL;DR: Target resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE), accounting for ~4% of unsolved MAE cases.
Journal ArticleDOI
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
Mark McCormack,Hongsheng Gui,Andres Ingason,Doug Speed,Galen E.B. Wright,Eunice J. Zhang,Rodrigo Secolin,Clarissa L. Yasuda,Maxwell Kwok,Stefan Wolking,Felicitas Becker,Sarah Rau,Andreja Avbersek,Kristin Heggeli,Costin Leu,Chantal Depondt,Graeme J. Sills,Anthony G Marson,Pauls Auce,Martin J. Brodie,Ben Francis,Marvin Johnson,Bobby P. C. Koeleman,Pasquale Striano,Antonietta Coppola,Federico Zara,Wolfram S. Kunz,Josemir W. Sander,Holger Lerche,Karl Martin Klein,Sarah Weckhuysen,Martin Krenn,Larus J. Gudmundsson,Kari Stefansson,Roland Krause,Neil H. Shear,Colin J. D. Ross,Norman Delanty,Munir Pirmohamed,Bruce Carleton,Fernando Cendes,Iscia Lopes-Cendes,Wei-Ping Liao,Terence J. O'Brien,Sanjay M. Sisodiya,Stacey S. Cherny,Patrick Kwan,Larry Baum,Gianpiero L. Cavalleri +48 more
TL;DR: The identification of genetic predictors of MPE in CFHR4 and CFH, members of the complement factor H–related protein family, suggest a new link between regulation of theplement system alternative pathway and phenytoin-induced hypersensitivity in European-ancestral patients.
Journal Article
Mutations in the gaba transporter slc6a1 cause epilepsy with myoclonic atonic seizures
Gemma L. Carvill,Jacinta M McMahon,Amy L Schneider,Matthew Zemel,Candace T. Myers,Julia Saykally,John Nguyen,Angela Robbiano,Federico Zara,Nicola Specchio,Oriano Mecarelli,R Smith,Richard J. Leventer,Rikke S. Møller,Marina Nikanorova,Petia Dimova,Albena Jordanova,Steven Petrou,Ingo Helbig,Pasquale Striano,Sarah Weckhuysen,Samuel F. Berkovic,Ingrid E. Scheffer,Heather C. Mefford +23 more
TL;DR: In this article, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE).
Journal ArticleDOI
Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.
Ganna Androsova,Roland Krause,Mojgansadat Borghei,Merel Wassenaar,Pauls Auce,Andreja Avbersek,Felicitas Becker,Bianca Berghuis,Ellen Campbell,A Coppola,Ben Francis,Stefan Wolking,Gianpiero L. Cavalleri,John Craig,Norman Delanty,Bobby P. C. Koeleman,Wolfram S. Kunz,Holger Lerche,Anthony G Marson,Josemir W. Sander,Graeme J. Sills,Pasquale Striano,Federico Zara,Sanjay M. Sisodiya,Chantal Depondt +24 more
TL;DR: The most commonly reported adverse drug reaction (ADR) were lethargy and drowsiness, dizziness, vertigo and ataxia, and blurred vision and diplopia as mentioned in this paper.
Journal ArticleDOI
Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy
Katri Silvennoinen,Nikola Maria de Lange,Sara Zagaglia,Simona Balestrini,Ganna Androsova,Merel Wassenaar,Pauls Auce,Pauls Auce,Andreja Avbersek,Felicitas Becker,Bianca Berghuis,Ellen Campbell,Antonietta Coppola,Antonietta Coppola,Ben Francis,Stefan Wolking,Gianpiero L. Cavalleri,John Craig,Norman Delanty,Norman Delanty,Marvin Johnson,Bobby P. C. Koeleman,Wolfram S. Kunz,Holger Lerche,Anthony G Marson,Anthony G Marson,Terence J. O'Brien,Josemir W. Sander,Graeme J. Sills,Pasquale Striano,Federico Zara,Job van der Palen,Roland Krause,Chantal Depondt,Sanjay M. Sisodiya +34 more
TL;DR: To study the effectiveness and tolerability of antiepileptic drugs (AEDs) commonly used in juvenile myoclonic epilepsy (JME).