A citation-based method for searching scientific literature

Edgard Verdura, Carme Fons, Agatha Schlüter, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Antonio Castellano, Aurora Pujol. J Med Genet 2020
Times Cited: 15







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



Times Cited
  Times     Co-cited
Similarity


De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
Amanda Rogers, Paul Golumbek, Elena Cellini, Viola Doccini, Renzo Guerrini, Carina Wallgren-Pettersson, Ann-Charlotte Thuresson, Christina A Gurnett. Am J Med Genet A 2018
19
53

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
Maria C D'Adamo, Constanze Gallenmüller, Ilenio Servettini, Elisabeth Hartl, Stephen J Tucker, Larissa Arning, Saskia Biskup, Alessandro Grottesi, Luca Guglielmi, Paola Imbrici,[...]. Front Physiol 2015
29
46

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
D L Browne, S T Gancher, J G Nutt, E R Brunt, E A Smith, P Kramer, M Litt. Nat Genet 1994
585
46

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
148
46

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
L H Eunson, R Rea, S M Zuberi, S Youroukos, C P Panayiotopoulos, R Liguori, P Avoni, R C McWilliam, J B Stephenson, M G Hanna,[...]. Ann Neurol 2000
170
46

A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
Jenny van der Wijst, Martin Konrad, Sjoerd A J Verkaart, Marcin Tkaczyk, Femke Latta, Janine Altmüller, Holger Thiele, Bodo Beck, Karl Peter Schlingmann, Jeroen H F de Baaij. Nephron 2018
12
50

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.
Paola Imbrici, Concetta Altamura, Francesca Gualandi, Giuseppe Felice Mangiatordi, Marcella Neri, Giovanni De Maria, Alessandra Ferlini, Alessandro Padovani, Maria Cristina D'Adamo, Orazio Nicolotti,[...]. Mol Cell Neurosci 2017
15
40

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Xiao-Meng Yin, Jing-Han Lin, Li Cao, Tong-Mei Zhang, Sheng Zeng, Kai-Lin Zhang, Wo-Tu Tian, Zheng-Mao Hu, Nan Li, Jun-Ling Wang,[...]. Hum Mol Genet 2018
27
40

Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
Tracey D Graves, Yoon-Hee Cha, Angelika F Hahn, Richard Barohn, Mohammed K Salajegheh, Robert C Griggs, Brian N Bundy, Joanna C Jen, Robert W Baloh, Michael G Hanna. Brain 2014
55
40

New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
Maria Cristina D'Adamo, Sonia Hasan, Luca Guglielmi, Ilenio Servettini, Marta Cenciarini, Luigi Catacuzzeno, Fabio Franciolini. Front Cell Neurosci 2015
41
33

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
44
33

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
Haijun Chen, Christian von Hehn, Leonard K Kaczmarek, Laura R Ment, Barbara R Pober, Fuki M Hisama. Neurogenetics 2007
24
33

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
Michelle K Demos, Vincenzo Macri, Kevin Farrell, Tanya N Nelson, Kristine Chapman, Eric Accili, Linlea Armstrong. Mov Disord 2009
36
33

Hereditary myokymia and periodic ataxia.
D H VanDyke, R C Griggs, M J Murphy, M N Goldstein. J Neurol Sci 1975
108
33

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
277
33

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
S M Zuberi, L H Eunson, A Spauschus, R De Silva, J Tolmie, N W Wood, R C McWilliam, J B Stephenson, D M Kullmann, M G Hanna. Brain 1999
255
33

Deletion of the K(V)1.1 potassium channel causes epilepsy in mice.
S L Smart, V Lopantsev, C L Zhang, C A Robbins, H Wang, S Y Chiu, P A Schwartzkroin, A Messing, B L Tempel. Neuron 1998
431
33

A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.
Tiago A Mestre, Andreea Manole, Heather MacDonald, Sheila Riazi, Natalia Kraeva, Michael G Hanna, Anthony E Lang, Roope Männikkö, Grace Yoon. Neurogenetics 2016
17
33

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Catherine A Brownstein, Alan H Beggs, Lance Rodan, Jiahai Shi, Meghan C Towne, Renee Pelletier, Siqi Cao, Paul A Rosenberg, David K Urion, Jonathan Picker,[...]. Neurogenetics 2016
21
33

A mouse model of episodic ataxia type-1.
Paco S Herson, Michael Virk, Nathan R Rustay, Chris T Bond, John C Crabbe, John P Adelman, James Maylie. Nat Neurosci 2003
100
33

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Kelsey Paulhus, Lauren Ammerman, Edward Glasscock. Int J Mol Sci 2020
25
33

Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I.
Zeynep S Karalok, Alfredo Megaro, Marta Cenciarini, Alev Guven, Sonia M Hasan, Birce D Taskin, Paola Imbrici, Serdar Ceylaner, Mauro Pessia, Maria C D'Adamo. Front Neurol 2018
6
66


Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1.
Ruth Rea, Alexander Spauschus, Louise H Eunson, Michael G Hanna, Dimitri M Kullmann. J Physiol 2002
49
26

Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.
Enriqueta Tristán-Clavijo, Francisco G Scholl, Alfons Macaya, Gemma Iglesias, Ana M Rojas, Miguel Lucas, Antonio Castellano, Amalia Martinez-Mir. Mov Disord 2016
14
28

Paroxysmal movement disorders: An update.
A Méneret, E Roze. Rev Neurol (Paris) 2016
36
26

Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
Steven J Shook, Hafsa Mamsa, Joanna C Jen, Robert W Baloh, Lan Zhou. Muscle Nerve 2008
25
26

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Silvia Masnada, Ulrike B S Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W Klee, Brendan C Lanpher, Ralitza H Gavrilova, Matthis Synofzik, Thomas Bast,[...]. Brain 2017
60
26

A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.
P Imbrici, F Gualandi, M C D'Adamo, M Taddei Masieri, P Cudia, D De Grandis, R Mannucci, I Nicoletti, S J Tucker, A Ferlini,[...]. Neuroscience 2008
29
26

Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature.
Orazio Brunetti, Paola Imbrici, Fabio Massimo Botti, Vito Enrico Pettorossi, Maria Cristina D'Adamo, Mario Valentino, Christian Zammit, Marina Mora, Sara Gibertini, Giuseppe Di Giovanni,[...]. Neurobiol Dis 2012
26
26

A novel mutation in KCNA1 causes episodic ataxia without myokymia.
Hane Lee, Hui Wang, Joanna C Jen, Chiara Sabatti, Robert W Baloh, Stanley F Nelson. Hum Mutat 2004
30
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
26

High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.
Tara L Klassen, Valerie C Bomben, Ankita Patel, Janice Drabek, Tim T Chen, Wenli Gu, Feng Zhang, Kevin Chapman, James R Lupski, Jeffrey L Noebels,[...]. Epilepsia 2014
58
26

Primary episodic ataxias: diagnosis, pathogenesis and treatment.
J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
203
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
106
26

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
95
26



A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.
Bob Glaudemans, Jenny van der Wijst, Rosana H Scola, Paulo J Lorenzoni, Angelien Heister, Annemiete W van der Kemp, Nine V Knoers, Joost G Hoenderop, René J Bindels. J Clin Invest 2009
96
20

Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.
M Kinali, H Jungbluth, L H Eunson, C A Sewry, A Y Manzur, E Mercuri, M G Hanna, F Muntoni. Neuromuscul Disord 2004
43
20

Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.
Saeko Ishida, Yu Sakamoto, Takeshi Nishio, Stéphanie Baulac, Mitsuru Kuwamura, Yukihiro Ohno, Akiko Takizawa, Shuji Kaneko, Tadao Serikawa, Tomoji Mashimo. Brain Res 2012
26
20


Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.
Paola Imbrici, Maria Cristina D'Adamo, Alessandro Grottesi, Andrea Biscarini, Mauro Pessia. Am J Physiol Cell Physiol 2011
25
20

Cardiorespiratory profiling reveals primary breathing dysfunction in Kcna1-null mice: Implications for sudden unexpected death in epilepsy.
Hemangini Dhaibar, Nicole M Gautier, Oleg Y Chernyshev, Paari Dominic, Edward Glasscock. Neurobiol Dis 2019
23
20

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.
T D Graves, S Rajakulendran, S M Zuberi, H R Morris, S Schorge, M G Hanna, D M Kullmann. Neurology 2010
30
20

Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons.
Helen M Brew, Joshua X Gittelman, Robert S Silverstein, Timothy D Hanks, Vas P Demas, Linda C Robinson, Carol A Robbins, Jennifer McKee-Johnson, Shing Yan Chiu, Albee Messing,[...]. J Neurophysiol 2007
117
20

Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.
Laura Zima, Sophia Ceulemans, Gail Reiner, Serena Galosi, Dillon Chen, Michelle Sahagian, Richard H Haas, Keith Hyland, Jennifer Friedman. Ann Clin Transl Neurol 2018
7
42


A novel KCNA1 mutation causing episodic ataxia type I.
Saskia Lassche, Sergio Lainez, Bastiaan R Bloem, Bart P C van de Warrenburg, Jeannette Hofmeijer, Henny H Lemmink, Joost G J Hoenderop, René J M Bindels, Gea Drost. Muscle Nerve 2014
10
30

Episodic Ataxias: Clinical and Genetic Features.
Kwang-Dong Choi, Jae-Hwan Choi. J Mov Disord 2016
43
20


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.