A citation-based method for searching scientific literature

Lena Damaj, Alexis Lupien-Meilleur, Anne Lortie, Émilie Riou, Luis H Ospina, Louise Gagnon, Catherine Vanasse, Elsa Rossignol. Eur J Hum Genet 2015
Times Cited: 79







List of co-cited articles
866 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity



Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
A Jouvenceau, L H Eunson, A Spauschus, V Ramesh, S M Zuberi, D M Kullmann, M G Hanna. Lancet 2001
223
21

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, D W Stockton, C Amos, W B Dobyns, S H Subramony, H Y Zoghbi, C C Lee. Nat Genet 1997
978
20

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
Paola Imbrici, Stephen L Jaffe, Louise H Eunson, Nicholas P Davies, Colin Herd, Robert Robertson, Dimitri M Kullmann, Michael G Hanna. Brain 2004
130
18

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
Sanjeev Rajakulendran, Tracey D Graves, Robyn W Labrum, Dimitrios Kotzadimitriou, Louise Eunson, Mary B Davis, Rosalyn Davies, Nicholas W Wood, Dimitri M Kullmann, Michael G Hanna,[...]. J Physiol 2010
48
31

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
R A Ophoff, G M Terwindt, M N Vergouwe, R van Eijk, P J Oefner, S M Hoffman, J E Lamerdin, H W Mohrenweiser, D E Bulman, M Ferrari,[...]. Cell 1996
18

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
Elide Mantuano, Silvia Romano, Liana Veneziano, Cinzia Gellera, Barbara Castellotti, Sara Caimi, Daniela Testa, Margherita Estienne, Giovanna Zorzi, Marianna Bugiani,[...]. J Neurol Sci 2010
46
30

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
881
17

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Karit Reinson, Eve Õiglane-Shlik, Inga Talvik, Ulvi Vaher, Anne Õunapuu, Margus Ennok, Rita Teek, Sander Pajusalu, Ülle Murumets, Tiiu Tomberg,[...]. Am J Med Genet A 2016
38
36

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
15

Eye movement disorders are an early manifestation of CACNA1A mutations in children.
Esther M Tantsis, Deepak Gill, Lyn Griffiths, Sachin Gupta, John Lawson, Neven Maksemous, Robert Ouvrier, Florence Riant, Robert Smith, Christopher Troedson,[...]. Dev Med Child Neurol 2016
34
32

Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit.
K Jun, E S Piedras-Rentería, S M Smith, D B Wheeler, S B Lee, T G Lee, H Chin, M E Adams, R H Scheller, R W Tsien,[...]. Proc Natl Acad Sci U S A 1999
322
13

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
693
12

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.
Lubov Blumkin, Marina Michelson, Esther Leshinsky-Silver, Sara Kivity, Dorit Lev, Tally Lerman-Sagie. J Child Neurol 2010
31
32

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
Igor Splawski, Katherine W Timothy, Leah M Sharpe, Niels Decher, Pradeep Kumar, Raffaella Bloise, Carlo Napolitano, Peter J Schwartz, Robert M Joseph, Karen Condouris,[...]. Cell 2004
910
12

The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.
E Indelicato, W Nachbauer, E Karner, A Eigentler, M Wagner, I Unterberger, W Poewe, M Delazer, S Boesch. Eur J Neurol 2019
12
83

Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
Sanjeev Rajakulendran, Diego Kaski, Michael G Hanna. Nat Rev Neurol 2012
77
11

Isolated P/Q Calcium Channel Deletion in Layer VI Corticothalamic Neurons Generates Absence Epilepsy.
Valerie C Bomben, Isamu Aiba, Jing Qian, Melanie D Mark, Stefan Herlitze, Jeffrey L Noebels. J Neurosci 2016
28
32

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
136
11

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
11

Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.
Wolfgang Nachbauer, Michael Nocker, Elfriede Karner, Iva Stankovic, Iris Unterberger, Andreas Eigentler, Rainer Schneider, Werner Poewe, Margarete Delazer, Sylvia Boesch. J Neurol 2014
31
25

CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy.
K Vahedi, C Denier, A Ducros, V Bousson, C Levy, H Chabriat, M Haguenau, E Tournier-Lasserve, M G Bousser. Neurology 2000
91
10

CaV 2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures.
Elsa Rossignol, Illya Kruglikov, Arn M J M van den Maagdenberg, Bernardo Rudy, Gord Fishell. Ann Neurol 2013
59
13

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
220
10

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
178
10

Delayed postnatal loss of P/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1a mutations.
Melanie D Mark, Takashi Maejima, Denise Kuckelsberg, Jong W Yoo, Robert A Hyde, Viral Shah, Davina Gutierrez, Rosa L Moreno, Wolfgang Kruse, Jeffrey L Noebels,[...]. J Neurosci 2011
57
14

Clinical spectrum of episodic ataxia type 2.
J Jen, G W Kim, R W Baloh. Neurology 2004
150
10

Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood.
P Bertholon, S Chabrier, F Riant, E Tournier-Lasserve, R Peyron. J Neurol Neurosurg Psychiatry 2009
19
42

Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Xiao Jiang, Praveen K Raju, Nazzareno D'Avanzo, Mathieu Lachance, Julie Pepin, François Dubeau, Wendy G Mitchell, Luis E Bello-Espinosa, Tyler M Pierson, Berge A Minassian,[...]. Epilepsia 2019
17
47

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
152
8

Stepwise developmental regression associated with novel CACNA1A mutation.
Andrea A Guerin, Annette Feigenbaum, Elizabeth J Donner, Grace Yoon. Pediatr Neurol 2008
23
30

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Dong Li, Hongjie Yuan, Xilma R Ortiz-Gonzalez, Eric D Marsh, Lifeng Tian, Elizabeth M McCormick, Gabrielle J Kosobucki, Wenjuan Chen, Anthony J Schulien, Rosetta Chiavacci,[...]. Am J Hum Genet 2016
89
8

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Elena Gardella, Felicitas Becker, Rikke S Møller, Julian Schubert, Johannes R Lemke, Line H G Larsen, Hans Eiberg, Michael Nothnagel, Holger Thiele, Janine Altmüller,[...]. Ann Neurol 2016
93
8

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas J Wierenga, Matthew T Pastore, Dennis Bartholomew, Mauricio R Delgado,[...]. PLoS Genet 2017
30
23

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.
Cèlia Sintas, Oriel Carreño, Noèlia Fernàndez-Castillo, Roser Corominas, Marta Vila-Pueyo, Claudio Toma, Ester Cuenca-León, Isabel Barroeta, Carles Roig, Víctor Volpini,[...]. Sci Rep 2017
18
38


CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report.
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Hiroyuki Yamada, Ayako Itakura, Toshinori Minato, Tetsuhiro Fukuyama, Yoshihiro Maegaki, Shinichi Hirose. Brain Dev 2018
9
77

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
Lorena Travaglini, Marta Nardella, Emanuele Bellacchio, Adele D'Amico, Alessandro Capuano, Roberto Frusciante, Matteo Di Capua, Raffaella Cusmai, Sabina Barresi, Silvia Morlino,[...]. Eur J Paediatr Neurol 2017
23
30


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
122
7

Sodium channel SCN1A and epilepsy: mutations and mechanisms.
Andrew Escayg, Alan L Goldin. Epilepsia 2010
202
7

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
266
7

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
Sarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, Rudy Van Coster, Helle Hjalgrim, Rikke S Møller, Sabine Grønborg, An-Sofie Schoonjans, Berten Ceulemans, Sinead B Heavin,[...]. Neurology 2013
123
7

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.
Y Liao, A-K Anttonen, E Liukkonen, E Gaily, S Maljevic, S Schubert, A Bellan-Koch, S Petrou, V E Ahonen, H Lerche,[...]. Neurology 2010
89
7

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
Alessandra Tonelli, Maria Grazia D'Angelo, Roberto Salati, Laura Villa, Chiara Germinasi, Tiziano Frattini, Giovanni Meola, Anna Carla Turconi, Nereo Bresolin, Maria Teresa Bassi. J Neurol Sci 2006
31
19

Synaptic, transcriptional and chromatin genes disrupted in autism.
Silvia De Rubeis, Xin He, Arthur P Goldberg, Christopher S Poultney, Kaitlin Samocha, A Erucment Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker,[...]. Nature 2014
7

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
7

De novo GABRG2 mutations associated with epileptic encephalopathies.
Dingding Shen, Ciria C Hernandez, Wangzhen Shen, Ningning Hu, Annapurna Poduri, Beth Shiedley, Alex Rotenberg, Alexandre N Datta, Steffen Leiz, Steffi Patzer,[...]. Brain 2017
44
13

Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De NovoCACNA1A Variant.
Heather M Byers, Christopher W Beatty, Si Houn Hahn, Sidney M Gospe. Pediatr Neurol 2016
9
66

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
A Escayg, M De Waard, D D Lee, D Bichet, P Wolf, T Mayer, J Johnston, R Baloh, T Sander, M H Meisler. Am J Hum Genet 2000
231
7


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.