Yi-Chung Lee, Ming-Jen Lee, Hsiang-Yu Yu, Chien Chen, Chang-Hung Hsu, Kon-Ping Lin, Kwong-Kum Liao, Ming-Hong Chang, Yi-Chu Liao, Bing-Wen Soong. PLoS One 2012
Times Cited: 92
Times Cited: 92
Times Cited
Times Co-cited
Similarity
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J Obermair, Maja Hempel, Bernhard E Flucher, Kerstin Kutsche. PLoS Genet 2020
Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J Obermair, Maja Hempel, Bernhard E Flucher, Kerstin Kutsche. PLoS Genet 2020
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The expanding spectrum of ATP1A3 related disease.
Cecilia Fernandes, Mohamad A Mikati. Eur J Paediatr Neurol 2019
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Clinical phenotypes of infantile onset CACNA1A-related disorder.
Tamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, Agathe Roubertie, Ginevra Zanni, Alfons Macaya, Gali Heimer, Belén Pérez Dueñas, Deborah A Sival, Ben Pode-Shakked,[...]. Eur J Paediatr Neurol 2021
Tamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, Agathe Roubertie, Ginevra Zanni, Alfons Macaya, Gali Heimer, Belén Pérez Dueñas, Deborah A Sival, Ben Pode-Shakked,[...]. Eur J Paediatr Neurol 2021
16
Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p.
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Apostolos Papandreou, Federica Rachele Danti, Robert Spaull, Vincenzo Leuzzi, Amy Mctague, Manju A Kurian. Dev Med Child Neurol 2020
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Novel E815K knock-in mouse model of alternating hemiplegia of childhood.
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3
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
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Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations.
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[Dose-dependent relationship of chronic use of phenytoin and cerebellar atrophy in patients with epilepsy].
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Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood.
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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
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Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.
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Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Kelsey Paulhus, Lauren Ammerman, Edward Glasscock. Int J Mol Sci 2020
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7
D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.
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Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features.
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16
Paroxysmal choreoathetosis and seizures induced by movement (reflex epilepsy).
C Perez-Borja, A C Tassinari, A G Swanson. Epilepsia 1967
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4
Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.
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4
Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population.
Jun Li, Yang You, Weihua Yue, Meixiang Jia, Hao Yu, Tianlan Lu, Zhiliu Wu, Yanyan Ruan, Lifang Wang, Dai Zhang. PLoS One 2015
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8
Movement disorders associated with the use of gabapentin.
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Non-epilepsy uses of antiepilepsy drugs.
Paweł D Zaremba, Magdalena Białek, Barbara Błaszczyk, Piotr Cioczek, Stanisław J Czuczwar. Pharmacol Rep 2006
Paweł D Zaremba, Magdalena Białek, Barbara Błaszczyk, Piotr Cioczek, Stanisław J Czuczwar. Pharmacol Rep 2006
2
Sporadic and familial glut1ds Italian patients: A wide clinical variability.
Valentina De Giorgis, Federica Teutonico, Cristina Cereda, Umberto Balottin, Marika Bianchi, Lucio Giordano, Sara Olivotto, Francesca Ragona, Anna Tagliabue, Giovanna Zorzi,[...]. Seizure 2015
Valentina De Giorgis, Federica Teutonico, Cristina Cereda, Umberto Balottin, Marika Bianchi, Lucio Giordano, Sara Olivotto, Francesca Ragona, Anna Tagliabue, Giovanna Zorzi,[...]. Seizure 2015
4
The influence of striatum on the substantia nigra: a study using the spreading depression technique.
D Albe-Fessard, P Sanderson, R Mavoungou. Brain Res Bull 1990
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16
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.
Pauline Marzin, Cyril Mignot, Nathalie Dorison, Louis Dufour, Dorothée Ville, Anna Kaminska, Eleni Panagiotakaki, Anne-Sophie Dienpendaele, Marie-José Penniello, Marie-Christine Nougues,[...]. Brain Dev 2018
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5
Increased striatal proenkephalin mRNA subsequent to production of spreading depression in rat cerebral cortex: activation of corticostriatal pathways?
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8
Paroxysmal Asymmetric Dystonic Arm Posturing-A Less Recognized but Characteristic Manifestation of ATP1A3-related disease.
Bettina Balint, Christopher D Stephen, Vrajesh Udani, Charulata Savant Sankhla, Narendrakumar H Barad, Anthony E Lang, Kailash P Bhatia. Mov Disord Clin Pract 2019
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Emerging Monogenic Complex Hyperkinetic Disorders.
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Paroxysmal kinesignenic choreoathetosis. Report of a case relieved by carbamazepine.
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1
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
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
4
Glut1 deficiency and alternating hemiplegia of childhood.
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2
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.
Jennifer R L Friedman, Elizabeth A Thiele, Dong Wang, Kara B Levine, Erin K Cloherty, Heidi H Pfeifer, Darryl C De Vivo, Anthony Carruthers, Marvin R Natowicz. Mov Disord 2006
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1
FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.
Julie Piarroux, Florence Riant, Véronique Humbertclaude, Ganaelle Remerand, Jessica Hadjadj, Franck Rejou, Christine Coubes, Lucile Pinson, Pierre Meyer, Agathe Roubertie. Ann Clin Transl Neurol 2020
Julie Piarroux, Florence Riant, Véronique Humbertclaude, Ganaelle Remerand, Jessica Hadjadj, Franck Rejou, Christine Coubes, Lucile Pinson, Pierre Meyer, Agathe Roubertie. Ann Clin Transl Neurol 2020
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Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
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De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
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Carbamazepine-, Oxcarbazepine-, Eslicarbazepine-Associated Movement Disorder: A Literature Review.
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Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
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Movement disorders in patients taking anticonvulsants.
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Diagnosis and Treatment of Alternating Hemiplegia of Childhood.
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From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Marie Hully, Sandrine Vuillaumier-Barrot, Christiane Le Bizec, Nathalie Boddaert, Anna Kaminska, Karine Lascelles, Pascale de Lonlay, Claude Cances, Vincent des Portes, Agathe Roubertie,[...]. Eur J Med Genet 2015
Marie Hully, Sandrine Vuillaumier-Barrot, Christiane Le Bizec, Nathalie Boddaert, Anna Kaminska, Karine Lascelles, Pascale de Lonlay, Claude Cances, Vincent des Portes, Agathe Roubertie,[...]. Eur J Med Genet 2015
3
Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia.
Dora Steel, Jennifer Heim, Michael C Kruer, Alba Sanchis-Juan, Lucy F Raymond, Paul Eunson, Manju A Kurian. Mov Disord 2020
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Kinesigenic Triggers in Episodic Ataxia Type 1.
Claudio M de Gusmao, Lucas Rogerio Garcia, Aaron Jesuthasan, Meaghan Muir, Alex Paciorkowski, Jonathan W Mink, Laura Silveira-Moriyama. Mov Disord Clin Pract 2020
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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.