A citation-based method for searching scientific literature

Enriqueta Tristán-Clavijo, Francisco G Scholl, Alfons Macaya, Gemma Iglesias, Ana M Rojas, Miguel Lucas, Antonio Castellano, Amalia Martinez-Mir. Mov Disord 2016
Times Cited: 13







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



Times Cited
  Times     Co-cited
Similarity


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
254
69

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
169
69

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
581
61

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
40
53

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
53

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
46

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
46

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
46


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
18
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
144
38


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
23
38

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
38

Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.
D L Browne, E R Brunt, R C Griggs, J G Nutt, S T Gancher, E A Smith, M Litt. Hum Mol Genet 1995
78
38

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
93
38

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
27
38


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
38

Hereditary myokymia and periodic ataxia.
D H VanDyke, R C Griggs, M J Murphy, M N Goldstein. J Neurol Sci 1975
107
38

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
29
38

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
Susan Elizabeth Tomlinson, Sanjeev Rajakulendran, Stella Veronica Tan, Tracey Dawn Graves, Doris-Eva Bamiou, Robyn W Labrum, David Burke, Carolyn M Sue, Paola Giunti, Stephanie Schorge,[...]. J Neurol Neurosurg Psychiatry 2013
31
38

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
38

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
26
38


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
430
30

Paroxysmal movement disorders: An update.
A Méneret, E Roze. Rev Neurol (Paris) 2016
32
30

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
29
30

Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.
Susan E Tomlinson, S Veronica Tan, Dimitri M Kullmann, Robert C Griggs, David Burke, Michael G Hanna, Hugh Bostock. Brain 2010
70
30

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
30

Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem.
M A Knight, E Storey, R J McKinlay Gardner, P Hand, S M Forrest. Hum Mutat 2000
11
36

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
200
30

Structure of potassium channels.
Qie Kuang, Pasi Purhonen, Hans Hebert. Cell Mol Life Sci 2015
96
30

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
56
30

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

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
40

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia.
Sonia Hasan, Cecilia Bove, Gabriella Silvestri, Elide Mantuano, Anna Modoni, Liana Veneziano, Lara Macchioni, Therese Hunter, Gary Hunter, Mauro Pessia,[...]. Sci Rep 2017
8
50

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
33

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Edgard Verdura, Carme Fons, Agatha Schlüter, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Antonio Castellano, Aurora Pujol. J Med Genet 2020
14
30



Ketogenic diet treatment increases longevity in Kcna1-null mice, a model of sudden unexpected death in epilepsy.
Kristina A Simeone, Stephanie A Matthews, Jong M Rho, Timothy A Simeone. Epilepsia 2016
36
23

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Elena Parrini, Carla Marini, Davide Mei, Anna Galuppi, Elena Cellini, Daniela Pucatti, Laura Chiti, Domenico Rutigliano, Claudia Bianchini, Simona Virdò,[...]. Hum Mutat 2017
89
23

Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.
Jenny van der Wijst, Bob Glaudemans, Hanka Venselaar, Anil V Nair, Anna-Lena Forst, Joost G J Hoenderop, René J M Bindels. J Biol Chem 2010
31
23

Paroxysmal dyskinesias: clinical features and classification.
M Demirkiran, J Jankovic. Ann Neurol 1995
350
23

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Alice R Gardiner, Kailash P Bhatia, Maria Stamelou, Russell C Dale, Manju A Kurian, Susanne A Schneider, G M Wali, Tim Counihan, Anthony H Schapira, Sian D Spacey,[...]. Neurology 2012
112
23


The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann,[...]. Brain 2015
78
23


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
42
23


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.