Results 31 to 40 of about 2,519,053 (161)

Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation

Frontiers in Genetics, 2022
Background: Atrial Fibrillation (AF) is the most prevalent sustained cardiac arrhythmia, responsible for considerable morbidity and mortality. The heterogenic and complex pathogenesis of AF remains poorly understood, which contributes to the current ...
Oliver Bundgaard Vad, Oliver Bundgaard Vad, Yannan Yan, Federico Denti, Gustav Ahlberg, Gustav Ahlberg, Lena Refsgaard, Sofia Hammami Bomholtz, Joana Larupa Santos, Simon Rasmussen, Stig Haunsø, Jesper Hastrup Svendsen, Jesper Hastrup Svendsen, Ingrid Elizabeth Christophersen, Ingrid Elizabeth Christophersen, Nicole Schmitt, Morten Salling Olesen, Morten Salling Olesen, Bo Hjorth Bentzen   +18 more
doaj   +1 more source

Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

PLoS ONE, 2013
Type 2 episodic ataxia (EA2) is the most common subtype among a group of rare hereditary syndromes characterized by recurrent attacks of ataxia. More than 60 mutations and several gene rearrangements due to large deletions in CACNA1A gene have been ...
Yafang Hu, Haishan Jiang, Qun Wang, Zuoshan Xie, Suyue Pan   +4 more
doaj   +1 more source

Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2

Biomedicines, 2020
Episodic ataxia type 2 (EA2) is an autosomal dominant neurological disorder characterized by paroxysmal attacks of ataxia, vertigo, and nausea that usually last hours to days.
Fanny Jaudon, Simona Baldassari, Ilaria Musante, Agnes Thalhammer, Federico Zara, Lorenzo A. Cingolani   +5 more
doaj   +1 more source

Case report of novel gene mutation causing episodic ataxia type 2

SAGE Open Medical Case Reports, 2017
Background: Episodic ataxia type 2 (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of ataxia, vertigo, nausea, and other neurologic symptoms. More than 50 mutations of the CACNA1A gene have been discovered in families with
David Alan Isaacs, Michael J Bradshaw, Kelly Brown, Peter Hedera   +3 more
doaj   +1 more source

Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families [PDF]

Arquivos de Neuro-Psiquiatria, 2006
Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes.
Luciana R. Lopes, Mario Fernando Prieto Peres, Kaate R.J. Vanmolkot, Patrícia R. Tobo, Eliova Zukerman, Rune R. Frants, Arn M.J.M. van den Maagdenberg, Carlos Alberto Moreira-Filho   +7 more
doaj   +1 more source

A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome [PDF]

, 2000
The P/Q-type Ca(2+) channel alpha(1A) subunit gene (CACNA1A) was cloned on the short arm of chromosome 19 between the markers D19S221 and D19S179 and found to be responsible for Episodic Ataxia type 2, Familial Hemiplegic Migraine and Spinocerebellar ...
Olsen, AS, Frontali, M, Iodice, C, Georgescu, A, Mantuano, E, GEORGESCU A, Gordon, L, Trettel, F, TRETTEL, Flavia, Calabresi, V, MANTUANO E, OLSEN A, Veneziano, L, Olsen, A, GORDON L, CALABRESI V, FRONTALI M. AND JODICE C., Sabbadini, G, VENEZIANO L, IODICE, CARLA, SABBADINI G   +20 more
core   +1 more source

Bovine CACNA1A gene and comparative analysis of the CAG repeats associated to human spinocerebellar ataxia type-6

, 2006
A small expansion of a CAG repeat domain in exon 47 of the human CACNA1A gene, which codes for the pore-forming α1A subunit of P/Q-type Ca2+ channels, causes spinocerebellar ataxia type-6.
Solís-Garrido, Luisa M., Andrés-Mateos, Eva, de Lucas-Cerrillo, Ana M., Renart, Jaime, Montiel, Carmen, Cruces, Jesús, Serantes, Rocío   +6 more
core   +2 more sources

From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing

Frontiers in Neurology, 2021
Ion channel dysfunction is a key pathological substrate of episodic neurological disorders. A classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for the pore-forming subunit of the neuronal calcium channel P/Q.
Elisabetta Indelicato, Sylvia Boesch
doaj   +1 more source

Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy [PDF]

, 2017
Yudan Lv, Zan Wang, Chang Liu, Li Cui Department of Neurology, Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, People’s Republic of China Background: Progressive myoclonic epilepsy (PME) is
Chang Liu, Li Cui, Lv YD, Cui L, Yudan Lv, Liu C, Zan Wang, Wang Z   +7 more
core   +1 more source

Prolonged neurologic deficits with brain MRI changes following ECT in an adolescent with a CACNA1a-related disorder; a case report

BMC Neurology, 2022
Background Electroconvulsive therapy is used to treat depression and schizophrenia with infrequent use in pediatric patients. We report a case of an adolescent with autism spectrum disorder and acute catatonia that presented with status epilepticus (SE ...
Joseph Vithayathil, Colbey Freeman, Marin Jacobwitz, Erin Simon Schwartz, Sonika Agarwal   +4 more
doaj   +1 more source