Ligia A Papale, Barbara Beyer, Julie M Jones, Lisa M Sharkey, Sergio Tufik, Michael Epstein, Verity A Letts, Miriam H Meisler, Wayne N Frankel, Andrew Escayg. Hum Mol Genet 2009
Times Cited: 82
Times Cited: 82
Times Cited
Times Co-cited
Similarity
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
Krishna R Veeramah, Janelle E O'Brien, Miriam H Meisler, Xiaoyang Cheng, Sulayman D Dib-Hajj, Stephen G Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E Eichler, Linda L Restifo,[...]. Am J Hum Genet 2012
Krishna R Veeramah, Janelle E O'Brien, Miriam H Meisler, Xiaoyang Cheng, Sulayman D Dib-Hajj, Stephen G Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E Eichler, Linda L Restifo,[...]. Am J Hum Genet 2012
51
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.
Melinda S Martin, Bin Tang, Ligia A Papale, Frank H Yu, William A Catterall, Andrew Escayg. Hum Mol Genet 2007
Melinda S Martin, Bin Tang, Ligia A Papale, Frank H Yu, William A Catterall, Andrew Escayg. Hum Mol Genet 2007
43
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.
Frank H Yu, Massimo Mantegazza, Ruth E Westenbroek, Carol A Robbins, Franck Kalume, Kimberly A Burton, William J Spain, G Stanley McKnight, Todd Scheuer, William A Catterall. Nat Neurosci 2006
Frank H Yu, Massimo Mantegazza, Ruth E Westenbroek, Carol A Robbins, Franck Kalume, Kimberly A Burton, William J Spain, G Stanley McKnight, Todd Scheuer, William A Catterall. Nat Neurosci 2006
36
Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.
Ikuo Ogiwara, Hiroyuki Miyamoto, Noriyuki Morita, Nafiseh Atapour, Emi Mazaki, Ikuyo Inoue, Tamaki Takeuchi, Shigeyoshi Itohara, Yuchio Yanagawa, Kunihiko Obata,[...]. J Neurosci 2007
Ikuo Ogiwara, Hiroyuki Miyamoto, Noriyuki Morita, Nafiseh Atapour, Emi Mazaki, Ikuyo Inoue, Tamaki Takeuchi, Shigeyoshi Itohara, Yuchio Yanagawa, Kunihiko Obata,[...]. J Neurosci 2007
35
Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities.
Melinda S Martin, Karoni Dutt, Ligia A Papale, Céline M Dubé, Stacey B Dutton, Georgius de Haan, Anupama Shankar, Sergio Tufik, Miriam H Meisler, Tallie Z Baram,[...]. J Biol Chem 2010
Melinda S Martin, Karoni Dutt, Ligia A Papale, Céline M Dubé, Stacey B Dutton, Georgius de Haan, Anupama Shankar, Sergio Tufik, Miriam H Meisler, Tallie Z Baram,[...]. J Biol Chem 2010
31
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
M M Trudeau, J C Dalton, J W Day, L P W Ranum, M H Meisler. J Med Genet 2006
M M Trudeau, J C Dalton, J W Day, L P W Ranum, M H Meisler. J Med Genet 2006
31
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
A Escayg, B T MacDonald, M H Meisler, S Baulac, G Huberfeld, I An-Gourfinkel, A Brice, E LeGuern, B Moulard, D Chaigne,[...]. Nat Genet 2000
A Escayg, B T MacDonald, M H Meisler, S Baulac, G Huberfeld, I An-Gourfinkel, A Brice, E LeGuern, B Moulard, D Chaigne,[...]. Nat Genet 2000
31
Distinct contributions of Na(v)1.6 and Na(v)1.2 in action potential initiation and backpropagation.
Wenqin Hu, Cuiping Tian, Tun Li, Mingpo Yang, Han Hou, Yousheng Shu. Nat Neurosci 2009
Wenqin Hu, Cuiping Tian, Tun Li, Mingpo Yang, Han Hou, Yousheng Shu. Nat Neurosci 2009
30
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
L Claes, J Del-Favero, B Ceulemans, L Lagae, C Van Broeckhoven, P De Jonghe. Am J Hum Genet 2001
L Claes, J Del-Favero, B Ceulemans, L Lagae, C Van Broeckhoven, P De Jonghe. Am J Hum Genet 2001
24
De novo mutations in epileptic encephalopathies.
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han,[...]. Nature 2013
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han,[...]. Nature 2013
23
The phenotypic spectrum of SCN8A encephalopathy.
Jan Larsen, Gemma L Carvill, Elena Gardella, Gerhard Kluger, Gudrun Schmiedel, Nina Barisic, Christel Depienne, Eva Brilstra, Yuan Mang, Jens Erik Klint Nielsen,[...]. Neurology 2015
Jan Larsen, Gemma L Carvill, Elena Gardella, Gerhard Kluger, Gudrun Schmiedel, Nina Barisic, Christel Depienne, Eva Brilstra, Yuan Mang, Jens Erik Klint Nielsen,[...]. Neurology 2015
21
Cell-type-dependent molecular composition of the axon initial segment.
Andrea Lorincz, Zoltan Nusser. J Neurosci 2008
Andrea Lorincz, Zoltan Nusser. J Neurosci 2008
20
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
Miriam H Meisler, Janelle E O'Brien, Lisa M Sharkey. J Physiol 2010
Miriam H Meisler, Janelle E O'Brien, Lisa M Sharkey. J Physiol 2010
20
Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.
Janelle E O'Brien, Miriam H Meisler. Front Genet 2013
Janelle E O'Brien, Miriam H Meisler. Front Genet 2013
20
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
I Ogiwara, K Ito, Y Sawaishi, H Osaka, E Mazaki, I Inoue, M Montal, T Hashikawa, T Shike, T Fujiwara,[...]. Neurology 2009
I Ogiwara, K Ito, Y Sawaishi, H Osaka, E Mazaki, I Inoue, M Montal, T Hashikawa, T Shike, T Fujiwara,[...]. Neurology 2009
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Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'.
D L Burgess, D C Kohrman, J Galt, N W Plummer, J M Jones, B Spear, M H Meisler. Nat Genet 1995
D L Burgess, D C Kohrman, J Galt, N W Plummer, J M Jones, B Spear, M H Meisler. Nat Genet 1995
19
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, Jacinta M McMahon, Brian J O'Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert,[...]. Nat Genet 2013
Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, Jacinta M McMahon, Brian J O'Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert,[...]. Nat Genet 2013
19
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
Carolien G F de Kovel, Miriam H Meisler, Eva H Brilstra, Frederique M C van Berkestijn, Ruben van 't Slot, Stef van Lieshout, Isaac J Nijman, Janelle E O'Brien, Michael F Hammer, Mark Estacion,[...]. Epilepsy Res 2014
Carolien G F de Kovel, Miriam H Meisler, Eva H Brilstra, Frederique M C van Berkestijn, Ruben van 't Slot, Stef van Lieshout, Isaac J Nijman, Janelle E O'Brien, Michael F Hammer, Mark Estacion,[...]. Epilepsy Res 2014
23
Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).
Jennifer A Kearney, David A Buchner, Georgius De Haan, Maja Adamska, Stephen I Levin, Amy R Furay, Roger L Albin, Julie M Jones, Mauricio Montal, Martin J Stevens,[...]. Hum Mol Genet 2002
Jennifer A Kearney, David A Buchner, Georgius De Haan, Maja Adamska, Stephen I Levin, Amy R Furay, Roger L Albin, Julie M Jones, Mauricio Montal, Martin J Stevens,[...]. Hum Mol Genet 2002
18
Role of axonal NaV1.6 sodium channels in action potential initiation of CA1 pyramidal neurons.
Michel Royeck, Marie-Therese Horstmann, Stefan Remy, Margit Reitze, Yoel Yaari, Heinz Beck. J Neurophysiol 2008
Michel Royeck, Marie-Therese Horstmann, Stefan Remy, Margit Reitze, Yoel Yaari, Heinz Beck. J Neurophysiol 2008
18
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
Mark Estacion, Janelle E O'Brien, Allison Conravey, Michael F Hammer, Stephen G Waxman, Sulayman D Dib-Hajj, Miriam H Meisler. Neurobiol Dis 2014
Mark Estacion, Janelle E O'Brien, Allison Conravey, Michael F Hammer, Stephen G Waxman, Sulayman D Dib-Hajj, Miriam H Meisler. Neurobiol Dis 2014
20
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy.
Katherine D Holland, Jennifer A Kearney, Tracy A Glauser, Gerri Buck, Mehdi Keddache, John R Blankston, Ian W Glaaser, Robert S Kass, Miriam H Meisler. Neurosci Lett 2008
Katherine D Holland, Jennifer A Kearney, Tracy A Glauser, Gerri Buck, Mehdi Keddache, John R Blankston, Ian W Glaaser, Robert S Kass, Miriam H Meisler. Neurosci Lett 2008
17
A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities.
J A Kearney, N W Plummer, M R Smith, J Kapur, T R Cummins, S G Waxman, A L Goldin, M H Meisler. Neuroscience 2001
J A Kearney, N W Plummer, M R Smith, J Kapur, T R Cummins, S G Waxman, A L Goldin, M H Meisler. Neuroscience 2001
17
Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons of Scn8a mutant mice.
I M Raman, L K Sprunger, M H Meisler, B P Bean. Neuron 1997
I M Raman, L K Sprunger, M H Meisler, B P Bean. Neuron 1997
17
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
Yunxiang Liao, Liesbet Deprez, Snezana Maljevic, Julika Pitsch, Lieve Claes, Dimitrina Hristova, Albena Jordanova, Sirpa Ala-Mello, Astrid Bellan-Koch, Dragica Blazevic,[...]. Brain 2010
Yunxiang Liao, Liesbet Deprez, Snezana Maljevic, Julika Pitsch, Lieve Claes, Dimitrina Hristova, Albena Jordanova, Sirpa Ala-Mello, Astrid Bellan-Koch, Dragica Blazevic,[...]. Brain 2010
17
Molecular identity of dendritic voltage-gated sodium channels.
Andrea Lorincz, Zoltan Nusser. Science 2010
Andrea Lorincz, Zoltan Nusser. Science 2010
17
Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.
Jacy L Wagnon, Matthew J Korn, Rachel Parent, Taylor A Tarpey, Julie M Jones, Michael F Hammer, Geoffrey G Murphy, Jack M Parent, Miriam H Meisler. Hum Mol Genet 2015
Jacy L Wagnon, Matthew J Korn, Rachel Parent, Taylor A Tarpey, Julie M Jones, Michael F Hammer, Geoffrey G Murphy, Jack M Parent, Miriam H Meisler. Hum Mol Genet 2015
17
Regulation of Thalamic and Cortical Network Synchrony by Scn8a.
Christopher D Makinson, Brian S Tanaka, Jordan M Sorokin, Jennifer C Wong, Catherine A Christian, Alan L Goldin, Andrew Escayg, John R Huguenard. Neuron 2017
Christopher D Makinson, Brian S Tanaka, Jordan M Sorokin, Jennifer C Wong, Catherine A Christian, Alan L Goldin, Andrew Escayg, John R Huguenard. Neuron 2017
30
Sodium channel mutations in epilepsy and other neurological disorders.
Miriam H Meisler, Jennifer A Kearney. J Clin Invest 2005
Miriam H Meisler, Jennifer A Kearney. J Clin Invest 2005
15
Exaggerated emotional behavior in mice heterozygous null for the sodium channel Scn8a (Nav1.6).
B C McKinney, C Y Chow, M H Meisler, G G Murphy. Genes Brain Behav 2008
B C McKinney, C Y Chow, M H Meisler, G G Murphy. Genes Brain Behav 2008
32
Sodium channel Na(v)1.6 is localized at nodes of ranvier, dendrites, and synapses.
J H Caldwell, K L Schaller, R S Lasher, E Peles, S R Levinson. Proc Natl Acad Sci U S A 2000
J H Caldwell, K L Schaller, R S Lasher, E Peles, S R Levinson. Proc Natl Acad Sci U S A 2000
15
A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons.
Mark Estacion, Andreas Gasser, Sulayman D Dib-Hajj, Stephen G Waxman. Exp Neurol 2010
Mark Estacion, Andreas Gasser, Sulayman D Dib-Hajj, Stephen G Waxman. Exp Neurol 2010
18
Sodium channel SCN1A and epilepsy: mutations and mechanisms.
Andrew Escayg, Alan L Goldin. Epilepsia 2010
Andrew Escayg, Alan L Goldin. Epilepsia 2010
15
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.
Bin Tang, Karoni Dutt, Ligia Papale, Raffaella Rusconi, Anupama Shankar, Jessica Hunter, Sergio Tufik, Frank H Yu, William A Catterall, Massimo Mantegazza,[...]. Neurobiol Dis 2009
Bin Tang, Karoni Dutt, Ligia Papale, Raffaella Rusconi, Anupama Shankar, Jessica Hunter, Sergio Tufik, Frank H Yu, William A Catterall, Massimo Mantegazza,[...]. Neurobiol Dis 2009
16
Role of hippocampal sodium channel Nav1.6 in kindling epileptogenesis.
Hal Blumenfeld, Angelika Lampert, Joshua P Klein, John Mission, Michael C Chen, Maritza Rivera, Sulayman Dib-Hajj, Avis R Brennan, Bryan C Hains, Stephen G Waxman. Epilepsia 2009
Hal Blumenfeld, Angelika Lampert, Joshua P Klein, John Mission, Michael C Chen, Maritza Rivera, Sulayman Dib-Hajj, Avis R Brennan, Bryan C Hains, Stephen G Waxman. Epilepsia 2009
14
A functional null mutation of SCN1B in a patient with Dravet syndrome.
Gustavo A Patino, Lieve R F Claes, Luis F Lopez-Santiago, Emily A Slat, Raja S R Dondeti, Chunling Chen, Heather A O'Malley, Charles B B Gray, Haruko Miyazaki, Nobuyuki Nukina,[...]. J Neurosci 2009
Gustavo A Patino, Lieve R F Claes, Luis F Lopez-Santiago, Emily A Slat, Raja S R Dondeti, Chunling Chen, Heather A O'Malley, Charles B B Gray, Haruko Miyazaki, Nobuyuki Nukina,[...]. J Neurosci 2009
14
Polarized distribution of ion channels within microdomains of the axon initial segment.
Audra Van Wart, James S Trimmer, Gary Matthews. J Comp Neurol 2007
Audra Van Wart, James S Trimmer, Gary Matthews. J Comp Neurol 2007
14
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.
Heneu O Tan, Christopher A Reid, Frank N Single, Philip J Davies, Cindy Chiu, Susan Murphy, Alison L Clarke, Leanne Dibbens, Heinz Krestel, John C Mulley,[...]. Proc Natl Acad Sci U S A 2007
Heneu O Tan, Christopher A Reid, Frank N Single, Philip J Davies, Cindy Chiu, Susan Murphy, Alison L Clarke, Leanne Dibbens, Heinz Krestel, John C Mulley,[...]. Proc Natl Acad Sci U S A 2007
14
14
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato,[...]. Lancet 2012
Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato,[...]. Lancet 2012
14
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
Chihiro Ohba, Mitsuhiro Kato, Satoru Takahashi, Tally Lerman-Sagie, Dorit Lev, Hiroshi Terashima, Masaya Kubota, Hisashi Kawawaki, Mayumi Matsufuji, Yasuko Kojima,[...]. Epilepsia 2014
Chihiro Ohba, Mitsuhiro Kato, Satoru Takahashi, Tally Lerman-Sagie, Dorit Lev, Hiroshi Terashima, Masaya Kubota, Hisashi Kawawaki, Mayumi Matsufuji, Yasuko Kojima,[...]. Epilepsia 2014
14
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
Nanda A Singh, Chris Pappas, E Jill Dahle, Lieve R F Claes, Timothy H Pruess, Peter De Jonghe, Joel Thompson, Missy Dixon, Christina Gurnett, Andy Peiffer,[...]. PLoS Genet 2009
Nanda A Singh, Chris Pappas, E Jill Dahle, Lieve R F Claes, Timothy H Pruess, Peter De Jonghe, Joel Thompson, Missy Dixon, Christina Gurnett, Andy Peiffer,[...]. PLoS Genet 2009
13
Compact myelin dictates the differential targeting of two sodium channel isoforms in the same axon.
T Boiko, M N Rasband, S R Levinson, J H Caldwell, G Mandel, J S Trimmer, G Matthews. Neuron 2001
T Boiko, M N Rasband, S R Levinson, J H Caldwell, G Mandel, J S Trimmer, G Matthews. Neuron 2001
13
Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility.
Stacey B Dutton, Christopher D Makinson, Ligia A Papale, Anupama Shankar, Bindu Balakrishnan, Kazu Nakazawa, Andrew Escayg. Neurobiol Dis 2013
Stacey B Dutton, Christopher D Makinson, Ligia A Papale, Anupama Shankar, Bindu Balakrishnan, Kazu Nakazawa, Andrew Escayg. Neurobiol Dis 2013
13
Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.
Sung Han, Chao Tai, Ruth E Westenbroek, Frank H Yu, Christine S Cheah, Gregory B Potter, John L Rubenstein, Todd Scheuer, Horacio O de la Iglesia, William A Catterall. Nature 2012
Sung Han, Chao Tai, Ruth E Westenbroek, Frank H Yu, Christine S Cheah, Gregory B Potter, John L Rubenstein, Todd Scheuer, Horacio O de la Iglesia, William A Catterall. Nature 2012
13
Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.
Nicole A Hawkins, Melinda S Martin, Wayne N Frankel, Jennifer A Kearney, Andrew Escayg. Neurobiol Dis 2011
Nicole A Hawkins, Melinda S Martin, Wayne N Frankel, Jennifer A Kearney, Andrew Escayg. Neurobiol Dis 2011
18
Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice.
Wenzhi Sun, Jacy L Wagnon, Connie L Mahaffey, Michael Briese, Jernej Ule, Wayne N Frankel. J Physiol 2013
Wenzhi Sun, Jacy L Wagnon, Connie L Mahaffey, Michael Briese, Jernej Ule, Wayne N Frankel. J Physiol 2013
52
Sodium channels and the neurobiology of epilepsy.
Megan Oliva, Samuel F Berkovic, Steven Petrou. Epilepsia 2012
Megan Oliva, Samuel F Berkovic, Steven Petrou. Epilepsia 2012
13
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
Ulvi Vaher, Margit Nõukas, Tiit Nikopensius, Mart Kals, Tarmo Annilo, Mari Nelis, Katrin Ounap, Tiia Reimand, Inga Talvik, Pilvi Ilves,[...]. J Child Neurol 2014
Ulvi Vaher, Margit Nõukas, Tiit Nikopensius, Mart Kals, Tarmo Annilo, Mari Nelis, Katrin Ounap, Tiia Reimand, Inga Talvik, Pilvi Ilves,[...]. J Child Neurol 2014
22
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard,[...]. Brain 2017
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard,[...]. Brain 2017
13
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.