Late-onset episodic ataxia associated with SLC1A3 mutation
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2016.137
Abstract: Episodic ataxia type 6 (EA6) is caused by mutations in SLC1A3 that encodes excitatory amino acid transporter 1 (EAAT1), a glial glutamate transporter. EAAT1 regulates the extent and durations of glutamate-mediated signal by the clearance… read more here.
Keywords: late onset; slc1a3 mutation; episodic ataxia; onset episodic ... See more keywords
Cognitive deficits in episodic ataxia type 2 mouse models
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DOI: 10.1093/hmg/ddab149
Abstract: Abstract Episodic ataxia type 2 (EA2) is a rare autosomal dominant disorder characterized by motor incoordination, paroxysmal dystonia, vertigo, nystagmus and more recently cognitive deficits. To date over 100 mutations in the CACNA1A gene have… read more here.
Keywords: ataxia type; mouse models; cognitive deficits; episodic ataxia ... See more keywords
Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I
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DOI: 10.3389/fneur.2018.00587
Abstract: Episodic ataxia type 1 (EA1), a Shaker-like K+ channelopathy, is a consequence of genetic anomalies in the KCNA1 gene that lead to dysfunctions in the voltage-gated K+ channel Kv1. 1. Generally, KCNA1 mutations are inherited… read more here.
Keywords: ataxia type; novo mutation; episodic ataxia; new novo ... See more keywords
Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.703970
Abstract: 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),… read more here.
Keywords: episodic ataxia; treatment; associated episodic; sodium channel ... See more keywords
Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.975849
Abstract: 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… read more here.
Keywords: loss function; episodic ataxia; loss; pathogenic variant ... See more keywords