Results 11 to 20 of about 7,269 (167)

Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia

Biomedicines, 2020
Episodic Ataxias (EAs) are a small group (EA1–EA8) of complex neurological conditions that manifest as incidents of poor balance and coordination. Diagnostic testing cannot always find causative variants for the phenotype, however, and this along with ...
Neven Maksemous, Lyn Griffiths, Larisa M Haupt   +2 more
exaly   +3 more sources

Case report and ten-year follow-up of episodic ataxia type 2 due to a novel variant in CACNA1A [PDF]

eNeurologicalSci, 2021
Lorenzo Verriello, Paola Carrera, Giada Pauletto, Andrea Bernardini, Mariarosaria Valente, Gian Luigi Gigli   +5 more
doaj   +2 more sources

Overactive EAAT1 Cl− channels impair GABAergic tonic inhibition in SLC1A3-associated episodic ataxia [PDF]

Acta Neuropathologica Communications
A missense variant in SLC1A3, which results in a proline to arginine substitution in the glial excitatory amino acid transporter 1 (EAAT1), causes a severe form of episodic ataxia type 6, characterized by recurrent attacks of ataxia and epilepsy.
Yulia Kostritskaia, Daniela Bulla-Miely, Miriam Engels, Jan Meyer, Juliane L. Berns, Sabrina Behuet, Sebastian Bludau, Christine R. Rose, Albert Becker, Thomas Gensch, Ulrike B. S. Hedrich, Christoph Fahlke, Peter Kovermann   +12 more
doaj   +2 more sources

Effects of Levetiracetam on Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6 with Episodic Ataxic Symptoms: A Case Series [PDF]

Genes
Haruo Shimazaki
exaly   +2 more sources

New Nonsense Variant c.2983G>T; p.Glu995* in the Gene Causes Progressive Autosomal Dominant Ataxia [PDF]

Journal of Movement Disorders, 2021
The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA).
Yannic Saathoff, Saskia Biskup, Claudia Funke, Christian Roth   +3 more
doaj   +1 more source

Treatable Ataxias: How to Find the Needle in the Haystack? [PDF]

Journal of Movement Disorders, 2022
Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology, vascular ...
Albert Stezin, Pramod Kumar Pal
doaj   +1 more source

Therapy of episodic ataxias: case report and review of the literature

Drugs in Context, 2019
Episodic ataxias (EAs) are characterized by recurrent, discrete episodes of vertigo and ataxia. EA1 and EA2 are the two most common forms. In the interictal interval, myokymia is typically present in EA1, whereas EA2 patients present with interictal ...
Daniele Orsucci, Laura Maria Raglione, Monica Mazzoni, Marco Vista   +3 more
doaj   +1 more source

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

Ataxia episódica não familiar possivelmente associada com o uso de nicotina: relato de caso Non-familial episodic ataxia possibly associated with the use of nicotine: case report

Arquivos de Neuro-Psiquiatria, 2000
O autor relata um caso clínico de ataxia episódica não familiar responsiva a acetazolamida, semelhante clinicamente a ataxia episódica tipo 2 (EA-2), no qual a nicotina pode representar ser um possível fator na gênese dos episódios atáxicos.The author ...
ANDERSON KUNTZ GRZESIUK
doaj   +1 more source

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy or transcriptional dysregulation. The multifaceted aspects of a single mutation.

Frontiers in Cellular Neuroscience, 2015
Spinocerebellar Ataxia type 6 is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia.
Paola eGiunti, Paola eGiunti, Elide eMantuano, Marina eFrontali, Liana eVeneziano   +4 more
doaj   +1 more source