A citation-based method for searching scientific literature

Pia Zacher, Thomas Mayer, Frank Brandhoff, Tobias Bartolomaeus, Diana Le Duc, Martin Finzel, Anja Heinze, Susanne Horn, Chiara Klöckner, Gudrun Körber, Julia Hentschel, Malgorzata Kalita, Ilona Krey, Marina Nastainczyk-Wulf, Konrad Platzer, Johannes Rebstock, Bernt Popp, Mathias Stiller, Anne-Christin Teichmann, Rami Abou Jamra, Johannes R Lemke. Genet Med 2021
Times Cited: 1







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



Times Cited
  Times     Co-cited
Similarity


Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2.
Xihui Zhou, Aiqun Ma, Xiaohong Liu, Chen Huang, Yanmin Zhang, Ruiming Shi, Shiwei Mao, Tao Geng, Shengbin Li. Eur J Pediatr 2006
29
100

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
166
100

The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
100

The severe epilepsy syndromes of infancy: A population-based study.
Katherine B Howell, Jeremy L Freeman, Mark T Mackay, Michael C Fahey, John Archer, Samuel F Berkovic, Eunice Chan, Gabriel Dabscheck, Stefanie Eggers, Michael Hayman,[...]. Epilepsia 2021
4
100

Rare copy number variants are an important cause of epileptic encephalopathies.
Heather C Mefford, Simone C Yendle, Cynthia Hsu, Joseph Cook, Eileen Geraghty, Jacinta M McMahon, Orvar Eeg-Olofsson, Lynette G Sadleir, Deepak Gill, Bruria Ben-Zeev,[...]. Ann Neurol 2011
152
100



ClinVar at five years: Delivering on the promise.
Melissa J Landrum, Brandi L Kattman. Hum Mutat 2018
66
100


Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy.
Jules C Beal, Koshi Cherian, Solomon L Moshe. Pediatr Neurol 2012
49
100

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
48
100

Genetic heterogeneity in infantile spasms.
Alison M Muir, Candace T Myers, Nancy T Nguyen, Julia Saykally, Dana Craiu, Peter De Jonghe, Ingo Helbig, Dorota Hoffman-Zacharska, Renzo Guerrini, Anna-Elina Lehesjoki,[...]. Epilepsy Res 2019
15
100

The genetics of human epilepsy.
Ingrid E Scheffer, Samuel F Berkovic. Trends Pharmacol Sci 2003
99
100


Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013.
Piero Pavone, Pasquale Striano, Raffaele Falsaperla, Lorenzo Pavone, Martino Ruggieri. Brain Dev 2014
86
100


Clinical spectrum of STX1B-related epileptic disorders.
Stefan Wolking, Patrick May, Davide Mei, Rikke S Møller, Simona Balestrini, Katherine L Helbig, Cecilia Desmettre Altuzarra, Nicolas Chatron, Charu Kaiwar, Katharina Stöhr,[...]. Neurology 2019
15
100

From next-generation sequencing to targeted treatment of non-acquired epilepsies.
Rikke S Møller, Trine B Hammer, Guido Rubboli, Johannes R Lemke, Katrine M Johannesen. Expert Rev Mol Diagn 2019
16
100

Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.
Paolo Scalmani, Raffaella Rusconi, Elena Armatura, Federico Zara, Giuliano Avanzini, Silvana Franceschetti, Massimo Mantegazza. J Neurosci 2006
83
100

Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus.
Hadassa Goldberg-Stern, Sharon Aharoni, Zaid Afawi, Odeya Bennett, Silke Appenzeller, Manuela Pendziwiat, Gregor Kuhlenbäumer, Lina Basel-Vanagaite, Avinoam Shuper, Amos D Korczyn,[...]. J Child Neurol 2014
31
100

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Claudia M Bonardi, Henrike O Heyne, Martina Fiannacca, Mark P Fitzgerald, Elena Gardella, Boudewijn Gunning, Kern Olofsson, Gaétan Lesca, Nienke Verbeek, Hannah Stamberger,[...]. Brain 2021
1
100

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Mathieu Milh, Nathalie Villeneuve, Mondher Chouchane, Anna Kaminska, Cécile Laroche, Marie Anne Barthez, Cyril Gitiaux, Céline Bartoli, Ana Borges-Correia, Pierre Cacciagli,[...]. Epilepsia 2011
77
100

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.
Xiaoling Yang, Yuehua Zhang, Xiaojing Xu, Shuang Wang, Zhixian Yang, Ye Wu, Xiaoyan Liu, Xiru Wu. BMC Neurol 2013
7
100

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
238
100

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
Laura Ortega-Moreno, Beatriz G Giráldez, Victor Soto-Insuga, Rebeca Losada-Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero-López, José M Serratosa. PLoS One 2017
34
100

The hidden genetics of epilepsy-a clinically important new paradigm.
Rhys H Thomas, Samuel F Berkovic. Nat Rev Neurol 2014
136
100

Seizure characteristics in chromosome 20 benign familial neonatal convulsions.
G M Ronen, T O Rosales, M Connolly, V E Anderson, M Leppert. Neurology 1993
142
100


Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome.
Zhou Han, Chunling Chen, Anne Christiansen, Sophina Ji, Qian Lin, Charles Anumonwo, Chante Liu, Steven C Leiser, Meena, Isabel Aznarez,[...]. Sci Transl Med 2020
28
100

Clinical spectrum of SCN2A mutations.
Xiuyu Shi, Sawa Yasumoto, Hirokazu Kurahashi, Eiji Nakagawa, Tatsuya Fukasawa, Satoshi Uchiya, Shinichi Hirose. Brain Dev 2012
66
100

PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.
Pierluigi Valente, Enrico Castroflorio, Pia Rossi, Manuela Fadda, Bruno Sterlini, Romina Ines Cervigni, Cosimo Prestigio, Silvia Giovedì, Franco Onofri, Elisa Mura,[...]. Cell Rep 2016
71
100

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
100

Severe myoclonic epilepsy in infancy: Dravet syndrome.
Charlotte Dravet, Michelle Bureau, Hirokazu Oguni, Yukio Fukuyama, Ozlem Cokar. Adv Neurol 2005
181
100


Benign infantile familial convulsions.
F Vigevano, L Fusco, M Di Capua, S Ricci, R Sebastianelli, P Lucchini. Eur J Pediatr 1992
179
100

[Spectrum of mutations in benign familial neonatal-infantile epilepsy].
Q Zeng, Y H Zhang, X L Yang, L H Pu, J Zhang, A J Liu, Z X Yang, X Y Liu, X R Wu. Zhonghua Er Ke Za Zhi 2018
1
100

Recent advances in epilepsy genomics and genetic testing.
Malavika Hebbar, Heather C Mefford. F1000Res 2020
8
100

Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies.
John C Mulley, Sarah E Heron, Leanne M Dibbens. Epilepsia 2011
8
100


PRRT2 mutations are the major cause of benign familial infantile seizures.
Julian Schubert, Roberta Paravidino, Felicitas Becker, Andrea Berger, Nerses Bebek, Amedeo Bianchi, Knut Brockmann, Giuseppe Capovilla, Bernardo Dalla Bernardina, Yukio Fukuyama,[...]. Hum Mutat 2012
65
100

Reflex myoclonic epilepsy in infancy: a critical review.
Alberto Verrotti, Sara Matricardi, Piero Pavone, Raffaella Marino, Paolo Curatolo. Epileptic Disord 2013
9
100


Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
Shinji Ono, Koh-ichiro Yoshiura, Akira Kinoshita, Taeko Kikuchi, Yoshibumi Nakane, Nobumasa Kato, Miyuki Sadamatsu, Tohru Konishi, Shinichiro Nagamitsu, Masato Matsuura,[...]. J Hum Genet 2012
63
100

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.
Mitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami, Kenjiro Kikuchi, Shuei Watanabe, Mizue Iai, Kazushi Miya, Ryuki Matsuura, Rumiko Takayama, Chihiro Ohba,[...]. Neurology 2014
67
100

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Taila Hartley, Gabrielle Lemire, Kristin D Kernohan, Heather E Howley, David R Adams, Kym M Boycott. Annu Rev Genomics Hum Genet 2020
11
100

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.
Joseph D Symonds, Sameer M Zuberi, Kirsty Stewart, Ailsa McLellan, Mary O'Regan, Stewart MacLeod, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Andreas Brunklaus,[...]. Brain 2019
63
100

Systematic review and meta-analysis of incidence studies of epilepsy and unprovoked seizures.
Irene A W Kotsopoulos, Tiny van Merode, Fons G H Kessels, Marc C T F M de Krom, J André Knottnerus. Epilepsia 2002
254
100

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
105
100

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS).
Shinsaku Yoshitomi, Yukitoshi Takahashi, Katsumi Imai, Eriko Koshimizu, Satoko Miyatake, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato, Takako Fujita,[...]. Seizure 2019
3
100

Genetic literacy series: genetic epilepsy with febrile seizures plus.
Kenneth A Myers, Ingrid E Scheffer, Samuel F Berkovic. Epileptic Disord 2018
16
100


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.