Ali Torkamani, Kevin Bersell, Benjamin S Jorge, Robert L Bjork, Jennifer R Friedman, Cinnamon S Bloss, Julie Cohen, Siddharth Gupta, Sakkubai Naidu, Carlos G Vanoye, Alfred L George, Jennifer A Kearney. Ann Neurol 2014
Times Cited: 85
Times Cited: 85
Times Cited
Times Co-cited
Similarity
A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
Isabelle Thiffault, David J Speca, Daniel C Austin, Melanie M Cobb, Kenneth S Eum, Nicole P Safina, Lauren Grote, Emily G Farrow, Neil Miller, Sarah Soden,[...]. J Gen Physiol 2015
Isabelle Thiffault, David J Speca, Daniel C Austin, Melanie M Cobb, Kenneth S Eum, Nicole P Safina, Lauren Grote, Emily G Farrow, Neil Miller, Sarah Soden,[...]. J Gen Physiol 2015
74
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.
Hirotomo Saitsu, Tenpei Akita, Jun Tohyama, Hadassa Goldberg-Stern, Yu Kobayashi, Roni Cohen, Mitsuhiro Kato, Chihiro Ohba, Satoko Miyatake, Yoshinori Tsurusaki,[...]. Sci Rep 2015
Hirotomo Saitsu, Tenpei Akita, Jun Tohyama, Hadassa Goldberg-Stern, Yu Kobayashi, Roni Cohen, Mitsuhiro Kato, Chihiro Ohba, Satoko Miyatake, Yoshinori Tsurusaki,[...]. Sci Rep 2015
69
Deletion of the Kv2.1 delayed rectifier potassium channel leads to neuronal and behavioral hyperexcitability.
D J Speca, G Ogata, D Mandikian, H I Bishop, S W Wiler, K Eum, H Jürgen Wenzel, E T Doisy, L Matt, K L Campi,[...]. Genes Brain Behav 2014
D J Speca, G Ogata, D Mandikian, H I Bishop, S W Wiler, K Eum, H Jürgen Wenzel, E T Doisy, L Matt, K L Campi,[...]. Genes Brain Behav 2014
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Steffen Syrbe, Ulrike B S Hedrich, Erik Riesch, Tania Djémié, Stephan Müller, Rikke S Møller, Bridget Maher, Laura Hernandez-Hernandez, Matthis Synofzik, Hande S Caglayan,[...]. Nat Genet 2015
Steffen Syrbe, Ulrike B S Hedrich, Erik Riesch, Tania Djémié, Stephan Müller, Rikke S Møller, Bridget Maher, Laura Hernandez-Hernandez, Matthis Synofzik, Hande S Caglayan,[...]. Nat Genet 2015
30
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, Dominique Audenaert, Tine Deconinck, Lieve R F Claes, Liesbet Deprez, Katrien Smets, Dimitrina Hristova, Iglika Yordanova,[...]. Ann Neurol 2012
Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, Dominique Audenaert, Tine Deconinck, Lieve R F Claes, Liesbet Deprez, Katrien Smets, Dimitrina Hristova, Iglika Yordanova,[...]. Ann Neurol 2012
27
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
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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
Carolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava,[...]. JAMA Neurol 2017
Carolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava,[...]. JAMA Neurol 2017
52
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Giulia Barcia, Matthew R Fleming, Aline Deligniere, Valeswara-Rao Gazula, Maile R Brown, Maeva Langouet, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio,[...]. Nat Genet 2012
Giulia Barcia, Matthew R Fleming, Aline Deligniere, Valeswara-Rao Gazula, Maile R Brown, Maeva Langouet, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio,[...]. Nat Genet 2012
23
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
Nicholas M Allen, Judith Conroy, Amre Shahwan, Bryan Lynch, Raony G Correa, Sergio D J Pena, Dara McCreary, Tiago R Magalhães, Sean Ennis, Sally A Lynch,[...]. Epilepsia 2016
Nicholas M Allen, Judith Conroy, Amre Shahwan, Bryan Lynch, Raony G Correa, Sergio D J Pena, Dara McCreary, Tiago R Magalhães, Sean Ennis, Sally A Lynch,[...]. Epilepsia 2016
22
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Caroline Nava, Carine Dalle, Agnès Rastetter, Pasquale Striano, Carolien G F de Kovel, Rima Nabbout, Claude Cancès, Dorothée Ville, Eva H Brilstra, Giuseppe Gobbi,[...]. Nat Genet 2014
Caroline Nava, Carine Dalle, Agnès Rastetter, Pasquale Striano, Carolien G F de Kovel, Rima Nabbout, Claude Cancès, Dorothée Ville, Eva H Brilstra, Giuseppe Gobbi,[...]. Nat Genet 2014
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Clinical whole exome sequencing in child neurology practice.
Siddharth Srivastava, Julie S Cohen, Hilary Vernon, Kristin Barañano, Rebecca McClellan, Leila Jamal, SakkuBai Naidu, Ali Fatemi. Ann Neurol 2014
Siddharth Srivastava, Julie S Cohen, Hilary Vernon, Kristin Barañano, Rebecca McClellan, Leila Jamal, SakkuBai Naidu, Ali Fatemi. Ann Neurol 2014
18
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Krishna R Veeramah, Laurel Johnstone, Tatiana M Karafet, Daniel Wolf, Ryan Sprissler, John Salogiannis, Asa Barth-Maron, Michael E Greenberg, Till Stuhlmann, Stefanie Weinert,[...]. Epilepsia 2013
Krishna R Veeramah, Laurel Johnstone, Tatiana M Karafet, Daniel Wolf, Ryan Sprissler, John Salogiannis, Asa Barth-Maron, Michael E Greenberg, Till Stuhlmann, Stefanie Weinert,[...]. Epilepsia 2013
18
Kv2 channel regulation of action potential repolarization and firing patterns in superior cervical ganglion neurons and hippocampal CA1 pyramidal neurons.
Pin W Liu, Bruce P Bean. J Neurosci 2014
Pin W Liu, Bruce P Bean. J Neurosci 2014
20
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
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Novel KCNB1 mutation associated with non-syndromic intellectual disability.
Xénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, Stéphane Bézieau, Bertrand Isidor, Noriko Miyake. J Hum Genet 2017
Xénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, Stéphane Bézieau, Bertrand Isidor, Noriko Miyake. J Hum Genet 2017
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GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Johannes R Lemke, Rik Hendrickx, Kirsten Geider, Bodo Laube, Michael Schwake, Robert J Harvey, Victoria M James, Alex Pepler, Isabelle Steiner, Konstanze Hörtnagel,[...]. Ann Neurol 2014
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A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
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Immunological identification and characterization of a delayed rectifier K+ channel polypeptide in rat brain.
J S Trimmer. Proc Natl Acad Sci U S A 1991
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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, Karen L Oliver, Snezana Maljevic, Marta A Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci,[...]. Nat Genet 2015
Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, Karen L Oliver, Snezana Maljevic, Marta A Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci,[...]. Nat Genet 2015
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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
15
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.
Francesco Miceli, Maria Virginia Soldovieri, Paolo Ambrosino, Michela De Maria, Michele Migliore, Rosanna Migliore, Maurizio Taglialatela. J Neurosci 2015
Francesco Miceli, Maria Virginia Soldovieri, Paolo Ambrosino, Michela De Maria, Michele Migliore, Rosanna Migliore, Maurizio Taglialatela. J Neurosci 2015
15
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
Gökce Orhan, Merle Bock, Dorien Schepers, Elena I Ilina, Stephanie Nadine Reichel, Heidi Löffler, Nicole Jezutkovic, Sarah Weckhuysen, Simone Mandelstam, Arvid Suls,[...]. Ann Neurol 2014
Gökce Orhan, Merle Bock, Dorien Schepers, Elena I Ilina, Stephanie Nadine Reichel, Heidi Löffler, Nicole Jezutkovic, Sarah Weckhuysen, Simone Mandelstam, Arvid Suls,[...]. Ann Neurol 2014
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Kv2 subunits underlie slowly inactivating potassium current in rat neocortical pyramidal neurons.
D Guan, T Tkatch, D J Surmeier, W E Armstrong, R C Foehring. J Physiol 2007
D Guan, T Tkatch, D J Surmeier, W E Armstrong, R C Foehring. J Physiol 2007
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Regulation of ion channel localization and phosphorylation by neuronal activity.
Hiroaki Misonou, Durga P Mohapatra, Eunice W Park, Victor Leung, Dongkai Zhen, Kaori Misonou, Anne E Anderson, James S Trimmer. Nat Neurosci 2004
Hiroaki Misonou, Durga P Mohapatra, Eunice W Park, Victor Leung, Dongkai Zhen, Kaori Misonou, Anne E Anderson, James S Trimmer. Nat Neurosci 2004
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A unique ion channel clustering domain on the axon initial segment of mammalian neurons.
Anna N King, Colleen F Manning, James S Trimmer. J Comp Neurol 2014
Anna N King, Colleen F Manning, James S Trimmer. J Comp Neurol 2014
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A novel targeting signal for proximal clustering of the Kv2.1 K+ channel in hippocampal neurons.
S T Lim, D E Antonucci, R H Scannevin, J S Trimmer. Neuron 2000
S T Lim, D E Antonucci, R H Scannevin, J S Trimmer. Neuron 2000
15
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
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The K+ channel, Kv2.1, is apposed to astrocytic processes and is associated with inhibitory postsynaptic membranes in hippocampal and cortical principal neurons and inhibitory interneurons.
J Du, J H Tao-Cheng, P Zerfas, C J McBain. Neuroscience 1998
J Du, J H Tao-Cheng, P Zerfas, C J McBain. Neuroscience 1998
14
The Kv2.1 K+ channel targets to the axon initial segment of hippocampal and cortical neurons in culture and in situ.
Patrick D Sarmiere, Cecile M Weigle, Michael M Tamkun. BMC Neurosci 2008
Patrick D Sarmiere, Cecile M Weigle, Michael M Tamkun. BMC Neurosci 2008
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Frequency-dependent regulation of rat hippocampal somato-dendritic excitability by the K+ channel subunit Kv2.1.
J Du, L L Haak, E Phillips-Tansey, J T Russell, C J McBain. J Physiol 2000
J Du, L L Haak, E Phillips-Tansey, J T Russell, C J McBain. J Physiol 2000
14
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
Carolien G F de Kovel, Eva H Brilstra, Marjan J A van Kempen, Ruben Van't Slot, Isaac J Nijman, Zaid Afawi, Peter De Jonghe, Tania Djémié, Renzo Guerrini, Katia Hardies,[...]. Mol Genet Genomic Med 2016
Carolien G F de Kovel, Eva H Brilstra, Marjan J A van Kempen, Ruben Van't Slot, Isaac J Nijman, Zaid Afawi, Peter De Jonghe, Tania Djémié, Renzo Guerrini, Katia Hardies,[...]. Mol Genet Genomic Med 2016
20
Distinct Cell- and Layer-Specific Expression Patterns and Independent Regulation of Kv2 Channel Subtypes in Cortical Pyramidal Neurons.
Hannah I Bishop, Dongxu Guan, Elke Bocksteins, Laxmi Kumar Parajuli, Karl D Murray, Melanie M Cobb, Hiroaki Misonou, Karen Zito, Robert C Foehring, James S Trimmer. J Neurosci 2015
Hannah I Bishop, Dongxu Guan, Elke Bocksteins, Laxmi Kumar Parajuli, Karl D Murray, Melanie M Cobb, Hiroaki Misonou, Karen Zito, Robert C Foehring, James S Trimmer. J Neurosci 2015
30
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.
Carla Marini, Michele Romoli, Elena Parrini, Cinzia Costa, Davide Mei, Francesco Mari, Lucio Parmeggiani, Elena Procopio, Tiziana Metitieri, Elena Cellini,[...]. Neurol Genet 2017
Carla Marini, Michele Romoli, Elena Parrini, Cinzia Costa, Davide Mei, Francesco Mari, Lucio Parmeggiani, Elena Procopio, Tiziana Metitieri, Elena Cellini,[...]. Neurol Genet 2017
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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
12
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
12
Regulation of Kv2.1 K(+) conductance by cell surface channel density.
Philip D Fox, Rob J Loftus, Michael M Tamkun. J Neurosci 2013
Philip D Fox, Rob J Loftus, Michael M Tamkun. J Neurosci 2013
22
Subcellular localization of K+ channels in mammalian brain neurons: remarkable precision in the midst of extraordinary complexity.
James S Trimmer. Neuron 2015
James S Trimmer. Neuron 2015
12
Induction of stable ER-plasma-membrane junctions by Kv2.1 potassium channels.
Philip D Fox, Christopher J Haberkorn, Elizabeth J Akin, Peter J Seel, Diego Krapf, Michael M Tamkun. J Cell Sci 2015
Philip D Fox, Christopher J Haberkorn, Elizabeth J Akin, Peter J Seel, Diego Krapf, Michael M Tamkun. J Cell Sci 2015
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Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.
S D J Pena, R L M Coimbra. Clin Genet 2015
S D J Pena, R L M Coimbra. Clin Genet 2015
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The genetic landscape of the epileptic encephalopathies of infancy and childhood.
Amy McTague, Katherine B Howell, J Helen Cross, Manju A Kurian, Ingrid E Scheffer. Lancet Neurol 2016
Amy McTague, Katherine B Howell, J Helen Cross, Manju A Kurian, Ingrid E Scheffer. Lancet Neurol 2016
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ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.
Ingrid E Scheffer, Samuel Berkovic, Giuseppe Capovilla, Mary B Connolly, Jacqueline French, Laura Guilhoto, Edouard Hirsch, Satish Jain, Gary W Mathern, Solomon L Moshé,[...]. Epilepsia 2017
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12
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
Carol J Milligan, Melody Li, Elena V Gazina, Sarah E Heron, Umesh Nair, Chantel Trager, Christopher A Reid, Anu Venkat, Donald P Younkin, Dennis J Dlugos,[...]. Ann Neurol 2014
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11
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Gemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, Corinna Hartmann, Rikke S Møller, Helle Hjalgrim, Joseph Cook, Eileen Geraghty, Brian J O'Roak, Steve Petrou,[...]. Neurology 2014
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11
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
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Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.
Francesco Miceli, Maria Virginia Soldovieri, Paolo Ambrosino, Vincenzo Barrese, Michele Migliore, Maria Roberta Cilio, Maurizio Taglialatela. Proc Natl Acad Sci U S A 2013
Francesco Miceli, Maria Virginia Soldovieri, Paolo Ambrosino, Vincenzo Barrese, Michele Migliore, Maria Roberta Cilio, Maurizio Taglialatela. Proc Natl Acad Sci U S A 2013
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Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
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11
Kv2.1: a voltage-gated k+ channel critical to dynamic control of neuronal excitability.
Hiroaki Misonou, Durga P Mohapatra, James S Trimmer. Neurotoxicology 2005
Hiroaki Misonou, Durga P Mohapatra, James S Trimmer. Neurotoxicology 2005
11
A potassium channel mutation in neonatal human epilepsy.
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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Cas Simons, Lachlan D Rash, Joanna Crawford, Linlin Ma, Ben Cristofori-Armstrong, David Miller, Kelin Ru, Gregory J Baillie, Yasemin Alanay, Adeline Jacquinet,[...]. Nat Genet 2015
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11
Identification of the Kv2.1 K+ channel as a major component of the delayed rectifier K+ current in rat hippocampal neurons.
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11
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.