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List of co-cited articles
1307 articles co-cited >1



Times Cited
  Times     Co-cited
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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
47

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
21

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
Lena Damaj, Alexis Lupien-Meilleur, Anne Lortie, Émilie Riou, Luis H Ospina, Louise Gagnon, Catherine Vanasse, Elsa Rossignol. Eur J Hum Genet 2015
79
26

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
19

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
16

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
42

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
16

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
15

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Fadi F Hamdan, Candace T Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux-Dion,[...]. Am J Hum Genet 2017
149
15

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
13

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
Katrine Johannesen, Carla Marini, Siona Pfeffer, Rikke S Møller, Thomas Dorn, Cristina Elena Niturad, Elena Gardella, Yvonne Weber, Marianne Søndergård, Helle Hjalgrim,[...]. Neurology 2016
53
22

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
12


Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
Katherine L Helbig, Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, Zöe Powis, Shuwei Li, Sha Tang, Ingo Helbig. Genet Med 2016
154
11

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
11

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
11

Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
J C Jen, J Wan, T P Palos, B D Howard, R W Baloh. Neurology 2005
198
11

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
383
10

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
Gaetan Lesca, Gabrielle Rudolf, Nadine Bruneau, Natalia Lozovaya, Audrey Labalme, Nadia Boutry-Kryza, Manal Salmi, Timur Tsintsadze, Laura Addis, Jacques Motte,[...]. Nat Genet 2013
232
10

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
10

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
925
10

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
10

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Ilaria Guella, Marna B McKenzie, Daniel M Evans, Sarah E Buerki, Eric B Toyota, Margot I Van Allen, Mohnish Suri, Frances Elmslie, Marleen E H Simon, Koen L I van Gassen,[...]. Am J Hum Genet 2017
29
34

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
10

De novo variants in neurodevelopmental disorders with epilepsy.
Henrike O Heyne, Tarjinder Singh, Hannah Stamberger, Rami Abou Jamra, Hande Caglayan, Dana Craiu, Peter De Jonghe, Renzo Guerrini, Katherine L Helbig, Bobby P C Koeleman,[...]. Nat Genet 2018
96
10

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
134
9

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
R H Wallace, C Marini, S Petrou, L A Harkin, D N Bowser, R G Panchal, D A Williams, G R Sutherland, J C Mulley, I E Scheffer,[...]. Nat Genet 2001
506
9

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Mark A Corbett, Susannah T Bellows, Melody Li, Renée Carroll, Silvana Micallef, Gemma L Carvill, Candace T Myers, Katherine B Howell, Snezana Maljevic, Holger Lerche,[...]. Neurology 2016
33
27

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
9


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
39

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
26

An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.
Madison V Epperson, Michael E Haws, Shannon M Standridge, Donald L Gilbert. J Child Neurol 2018
11
81

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
52

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
Gemma L Carvill, Jacinta M McMahon, Amy Schneider, Matthew Zemel, Candace T Myers, Julia Saykally, John Nguyen, Angela Robbiano, Federico Zara, Nicola Specchio,[...]. Am J Hum Genet 2015
78
10

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.
S Baulac, G Huberfeld, I Gourfinkel-An, G Mitropoulou, A Beranger, J F Prud'homme, M Baulac, A Brice, R Bruzzone, E LeGuern. Nat Genet 2001
478
8

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
Anne T Berg, Samuel F Berkovic, Martin J Brodie, Jeffrey Buchhalter, J Helen Cross, Walter van Emde Boas, Jerome Engel, Jacqueline French, Tracy A Glauser, Gary W Mathern,[...]. Epilepsia 2010
8

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Rikke S Møller, Line H G Larsen, Katrine M Johannesen, Inga Talvik, Tiina Talvik, Ulvi Vaher, Maria J Miranda, Muhammad Farooq, Jens E K Nielsen, Lene Lavard Svendsen,[...]. Mol Syndromol 2016
54
14

De novo GABRA1 mutations in Ohtahara and West syndromes.
Hirofumi Kodera, Chihiro Ohba, Mitsuhiro Kato, Toshiyuki Maeda, Kaoru Araki, Daisuke Tajima, Muneaki Matsuo, Naomi Hino-Fukuyo, Kosuke Kohashi, Akihiko Ishiyama,[...]. Epilepsia 2016
40
20

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

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
Tyler Mark Pierson, Hongjie Yuan, Eric D Marsh, Karin Fuentes-Fajardo, David R Adams, Thomas Markello, Gretchen Golas, Dimitre R Simeonov, Conisha Holloman, Anel Tankovic,[...]. Ann Clin Transl Neurol 2014
128
8

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
John J Millichap, Kristen L Park, Tammy Tsuchida, Bruria Ben-Zeev, Lionel Carmant, Robert Flamini, Nishtha Joshi, Paul M Levisohn, Eric Marsh, Srishti Nangia,[...]. Neurol Genet 2016
85
9

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
Kazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita, Masaaki Shiina, Mitsuhiro Kato, Hideki Hoshino, Hiroshi Terashima, Hitoshi Osaka, Shinichi Nakamura, Jun Tohyama,[...]. Am J Hum Genet 2013
108
8


The genetic landscape of infantile spasms.
Jacques L Michaud, Mathieu Lachance, Fadi F Hamdan, Lionel Carmant, Anne Lortie, Paola Diadori, Philippe Major, Inge A Meijer, Emmanuelle Lemyre, Patrick Cossette,[...]. Hum Mol Genet 2014
102
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
26

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

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
18

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Rikke S Møller, Thomas V Wuttke, Ingo Helbig, Carla Marini, Katrine M Johannesen, Eva H Brilstra, Ulvi Vaher, Ingo Borggraefe, Inga Talvik, Tiina Talvik,[...]. Neurology 2017
45
17

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
O K Steinlein, J C Mulley, P Propping, R H Wallace, H A Phillips, G R Sutherland, I E Scheffer, S F Berkovic. Nat Genet 1995
666
8


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.