A citation-based method for searching scientific literature

D L Browne, S T Gancher, J G Nutt, E R Brunt, E A Smith, P Kramer, M Litt. Nat Genet 1994
Times Cited: 577



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, D M Kullmann, A Spauschus. Ann Neurol 2000
Times Cited: 169




List of shared articles



Times cited

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.
Paola Imbrici, Andrea Accogli, Rikard Blunck, Concetta Altamura, Michele Iacomino, Maria Cristina D'adamo, Anna Allegri, Marina Pedemonte, Noemi Brolatti, Stella Vari,[...]. Biomedicines 2021
1

Paroxysmal Genetic Movement Disorders and Epilepsy.
Claudio M de Gusmão, Lucas Garcia, Mohamad A Mikati, Samantha Su, Laura Silveira-Moriyama. Front Neurol 2021
2

Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.
Lorenzo Maggi, Silvia Bonanno, Concetta Altamura, Jean-François Desaphy. Cells 2021
2

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

Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine.
Rían W Manville, Geoffrey W Abbott. J Pharmacol Exp Ther 2020
6

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Kelsey Paulhus, Lauren Ammerman, Edward Glasscock. Int J Mol Sci 2020
15

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
Maria Cristina D'Adamo, Antonella Liantonio, Jean-Francois Rolland, Mauro Pessia, Paola Imbrici. Int J Mol Sci 2020
13

Paroxysmal movement disorders - practical update on diagnosis and management.
Claudio M De Gusmao, Laura Silveira-Moriyama. Expert Rev Neurother 2019
5

Divergent paths to seizure-like events.
Neela K Codadu, Robert T Graham, Richard J Burman, R Thomas Jackson-Taylor, Joseph V Raimondo, Andrew J Trevelyan, R Ryley Parrish. Physiol Rep 2019
6


Nodes, paranodes and neuropathies.
Janev Fehmi, Steven S Scherer, Hugh J Willison, Simon Rinaldi. J Neurol Neurosurg Psychiatry 2018
20

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.
Julia Oyrer, Snezana Maljevic, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou, Christopher A Reid. Pharmacol Rev 2018
75

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
11

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
17

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

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

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
87

The Molecular Basis of Polyunsaturated Fatty Acid Interactions with the Shaker Voltage-Gated Potassium Channel.
Samira Yazdi, Matthias Stein, Fredrik Elinder, Magnus Andersson, Erik Lindahl. PLoS Comput Biol 2016
35


Distinctive role of KV1.1 subunit in the biology and functions of low threshold K(+) channels with implications for neurological disease.
Saak V Ovsepian, Marie LeBerre, Volker Steuber, Valerie B O'Leary, Christian Leibold, J Oliver Dolly. Pharmacol Ther 2016
29

Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.
Chiara Villa, Romina Combi. Front Cell Neurosci 2016
57

Action potential broadening in a presynaptic channelopathy.
Rahima Begum, Yamina Bakiri, Kirill E Volynski, Dimitri M Kullmann. Nat Commun 2016
35

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
13

Genetic neurological channelopathies: molecular genetics and clinical phenotypes.
J Spillane, D M Kullmann, M G Hanna. J Neurol Neurosurg Psychiatry 2016
54


Magnesium in man: implications for health and disease.
Jeroen H F de Baaij, Joost G J Hoenderop, René J M Bindels. Physiol Rev 2015
528

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