Results 1 to 10 of about 125,979 (217)

FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9 [PDF]

Annals of Clinical and Translational Neurology, 2020
We report four patients from two families who presented attacks of childhood‐onset episodic ataxia associated with pathogenic mutations in the FGF14 gene. Attacks were triggered by fever, lasted several days, and had variable frequencies.
Julie Piarroux, Florence Riant, Véronique Humbertclaude, Ganaelle Remerand, Jessica Hadjadj, Franck Rejou, Christine Coubes, Lucile Pinson, Pierre Meyer, Agathe Roubertie   +9 more
doaj   +3 more sources

Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia [PDF]

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   +4 more sources

Case report: Episodic ataxia without ataxia? [PDF]

Frontiers in Neurology, 2023
Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical presentations and frequently overlapping phenotypes with other neuromuscular disorders, likely ...
Andrea Gaudio, Fabio Gotta, Clarissa Ponti, Clarissa Ponti, Francesca Sanguineri, Francesca Sanguineri, Lucia Trevisan, Lucia Trevisan, Alessandro Geroldi, Serena Patrone, Chiara Gemelli, Corrado Cabona, Guja Astrea, Chiara Fiorillo, Chiara Fiorillo, Stefano Gustincich, Marina Grandis, Marina Grandis, Paola Mandich, Paola Mandich   +19 more
doaj   +2 more sources

Episodic Ataxia Type 2 Presenting with Fluctuating Weakness in a Child with a De Novo CACNA1A Variant [PDF]

Children
Background: Episodic ataxia type 2 (EA2) is the most common subtype of episodic ataxia and is primarily caused by pathogenic variants in the CACNA1A gene. Although classically characterized by paroxysmal ataxia, CACNA1A-related disorders are increasingly
Sungyeon Park, Hyunwoo Bae, Soonhak Kwon, Yun Jeong Lee   +3 more
doaj   +2 more sources

Diagnostic approach to episodic ataxia types 1 and 2: a proposed algorithm for limited resource-settings [PDF]

Frontiers in Neurology
BackgroundEpisodic ataxias (EA) comprise a heterogeneous group of genetic conditions with spells of gait difficulty and imbalance, for which the main causes are EA1 (KCNA1 gene) and EA2 (CACNA1A gene). While EA1 may respond to some antiepileptics and EA2
Claudio M. de Gusmao, Claudio M. de Gusmao, Lucas H. M. R. Garcia, Jonathan W. Mink, Alex R. Paciorkowski, Tamara Pringsheim, Bruno Assis Della Ripa, Carolina Silva Rauffus, Ana Carolina Coan, Laura Silveira-Moriyama, Laura Silveira-Moriyama   +10 more
doaj   +2 more sources

Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia [PDF]

Frontiers in Neurology, 2022
Episodic ataxia is an umbrella term for a group of nervous system disorders that adversely and episodically affect movement. Episodes are recurrent, characterized by loss of balance and coordination and can be accompanied by other symptoms ranging from ...
Rían W. Manville, Richard Sidlow, Geoffrey W. Abbott   +2 more
doaj   +2 more sources

Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature [PDF]

Frontiers in Neurology, 2021
Introduction: Among genetic paroxysmal movement disorders, variants in ion channel coding genes constitute a major subgroup. Loss-of-function (LOF) variants in KCNA1, the gene coding for KV1.1 channels, are associated with episodic ataxia type 1 (EA1 ...
Stephan Lauxmann, Stephan Lauxmann, Lukas Sonnenberg, Lukas Sonnenberg, Lukas Sonnenberg, Nils A. Koch, Nils A. Koch, Christian Bosselmann, Natalie Winter, Niklas Schwarz, Thomas V. Wuttke, Thomas V. Wuttke, Ulrike B. S. Hedrich, Yuanyuan Liu, Holger Lerche, Jan Benda, Jan Benda, Josua Kegele   +17 more
doaj   +2 more sources

Clinical characterization of a novel episodic ataxia in young working Cocker Spaniels [PDF]

Journal of Veterinary Internal Medicine
Background Episodic ataxias (EAs) are a rare group of paroxysmal movement disorders (PMD) described in human medicine with only one suspected case described in veterinary literature.
Clara Sarró, Catherine Stalin, Rodrigo Gutierrez‐Quintana, Ana Cloquell   +3 more
doaj   +2 more sources

New insights into the pathogenesis and therapeutics of episodic ataxia type 1

Frontiers in Cellular Neuroscience, 2015
Episodic ataxia type 1 (EA1) is a K+ channelopathy characterized by a broad spectrum of symptoms. Generally, patients may experience constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with ...
Fabio Franciolini, Luigi Catacuzzeno, Maria Cristina D'Adamo   +2 more
exaly   +3 more sources

Large genomic deletions in CACNA1A cause episodic ataxia type 2

Frontiers in Neurology, 2011
Episodic ataxia (EA) syndromes are heritable diseases characterized by dramatic episodes of imbalance and incoordination. Episodic ataxia type 2 (EA2), the most common and the best characterized subtype, is caused by mostly nonsense, splice site, small ...
Alhamza R Al-Bayati, Joanna Jen, David Zee   +2 more
exaly   +3 more sources