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Neurology
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October 19, 2012
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
Carla Marini, Valerio Conti, Davide Mei, et al.
Molecular Genetics and Metabolism Reports
|
August 31, 2019
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis
Mario Mastrangelo, Chiara Alfonsi, Isabella Screpanti, et al.
Epilepsia
|
January 22, 2005
Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation
Tiziana Pisano, Carla Marini, Paola Brovedani, et al.
American Journal of Medical Genetics. Part A
|
August 26, 2018
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation
Dalila De Vita, Davide Mei, Domenico Rutigliano, et al.
Epilepsia
|
October 1, 2014
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys
Davide Mei, Francesca Darra, Carmen Barba, et al.
Epilepsia
|
November 15, 2021
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants
Francesco Miceli, Renzo Guerrini, Mario Nappi, et al.
Neuropediatrics
|
December 6, 2021
SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy
Jo Sourbron, Katrien Jansen, Davide Mei, et al.
European Journal of Medical Genetics
|
May 26, 2022
Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists
Amy McTague, Andreas Brunklaus, Giulia Barcia, et al.
Epilepsia Open
|
October 8, 2023
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants
Norman Panza, Claudia Bianchini, Valentina Cetica, et al.
Neurology. Genetics
|
February 12, 2020
Early infantile epileptic-dyskinetic encephalopathy due to biallelic <i>PIGP</i> mutations
Annalisa Vetro, Tiziana Pisano, Silvia Chiaro, et al.
Page
of 11
Search research articles
Search
Showing results (21-30 of 110) with videos related to
Sort By:
Page
of 11
Neurology
|
October 19, 2012
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
Carla Marini, Valerio Conti, Davide Mei, et al.
Molecular Genetics and Metabolism Reports
|
August 31, 2019
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis
Mario Mastrangelo, Chiara Alfonsi, Isabella Screpanti, et al.
Epilepsia
|
January 22, 2005
Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation
Tiziana Pisano, Carla Marini, Paola Brovedani, et al.
American Journal of Medical Genetics. Part A
|
August 26, 2018
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation
Dalila De Vita, Davide Mei, Domenico Rutigliano, et al.
Epilepsia
|
October 1, 2014
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys
Davide Mei, Francesca Darra, Carmen Barba, et al.
Epilepsia
|
November 15, 2021
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants
Francesco Miceli, Renzo Guerrini, Mario Nappi, et al.
Neuropediatrics
|
December 6, 2021
SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy
Jo Sourbron, Katrien Jansen, Davide Mei, et al.
European Journal of Medical Genetics
|
May 26, 2022
Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists
Amy McTague, Andreas Brunklaus, Giulia Barcia, et al.
Epilepsia Open
|
October 8, 2023
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants
Norman Panza, Claudia Bianchini, Valentina Cetica, et al.
Neurology. Genetics
|
February 12, 2020
Early infantile epileptic-dyskinetic encephalopathy due to biallelic <i>PIGP</i> mutations
Annalisa Vetro, Tiziana Pisano, Silvia Chiaro, et al.
Page
of 11