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Carla Marini

Showing results (71-80 of 161) with videos related to

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Epilepsia|April 17, 2013
SCN1A testing for epilepsy: application in clinical practiceShinichi Hirose, Ingrid E Scheffer, Carla Marini, et al.
Brain : a Journal of Neurology|September 15, 2012
Atypical face shape and genomic structural variants in epilepsyKrishna Chinthapalli, Emanuele Bartolini, Jan Novy, et al.
Epilepsia|April 17, 2015
Early and effective treatment of KCNQ2 encephalopathyTiziana Pisano, Adam L Numis, Sinéad B Heavin, et al.
Neurology. Genetics|December 22, 2017
Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutationsCarla Marini, Michele Romoli, Elena Parrini, et al.
Epilepsia|March 11, 2015
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsyLaura Mumoli, Patrizia Tarantino, Roberto Michelucci, et al.
American Journal of Human Genetics|July 11, 2006
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fearPaolo Aridon, Carla Marini, Chiara Di Resta, et al.
Neurology|October 19, 2012
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizuresIngrid E Scheffer, Bronwyn E Grinton, Sarah E Heron, et al.
Neurology. Genetics|April 29, 2021
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A Myers, Carla Marini, Gemma L Carvill, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 5, 2002
Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsyDavid N Bowser, David A Wagner, Cynthia Czajkowski, et al.
Brain : a Journal of Neurology|April 21, 2010
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patientsRichard J Leventer, Anna Jansen, Daniela T Pilz, et al.
Pageof 17

Showing results (71-80 of 161) with videos related to

Sort By:
Pageof 17
Epilepsia|April 17, 2013
SCN1A testing for epilepsy: application in clinical practiceShinichi Hirose, Ingrid E Scheffer, Carla Marini, et al.
Brain : a Journal of Neurology|September 15, 2012
Atypical face shape and genomic structural variants in epilepsyKrishna Chinthapalli, Emanuele Bartolini, Jan Novy, et al.
Epilepsia|April 17, 2015
Early and effective treatment of KCNQ2 encephalopathyTiziana Pisano, Adam L Numis, Sinéad B Heavin, et al.
Neurology. Genetics|December 22, 2017
Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutationsCarla Marini, Michele Romoli, Elena Parrini, et al.
Epilepsia|March 11, 2015
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsyLaura Mumoli, Patrizia Tarantino, Roberto Michelucci, et al.
American Journal of Human Genetics|July 11, 2006
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fearPaolo Aridon, Carla Marini, Chiara Di Resta, et al.
Neurology|October 19, 2012
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizuresIngrid E Scheffer, Bronwyn E Grinton, Sarah E Heron, et al.
Neurology. Genetics|April 29, 2021
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A Myers, Carla Marini, Gemma L Carvill, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 5, 2002
Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsyDavid N Bowser, David A Wagner, Cynthia Czajkowski, et al.
Brain : a Journal of Neurology|April 21, 2010
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patientsRichard J Leventer, Anna Jansen, Daniela T Pilz, et al.
Pageof 17