Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2 [PDF]
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 +2 more
exaly +4 more sources
A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine [PDF]
BMC Neurology, 2019 Background To describe a patient with sleep alleviated episodic ataxia type 2 with a novel CACNA1A pathogenic variant and provide a possible link to sleep responsive migraine.
Abhimanyu S. Ahuja +2 more
doaj +2 more sources
Episodic Ataxia Type 2 Presenting with Fluctuating Weakness in a Child with a De Novo CACNA1A Variant [PDF]
ChildrenBackground: 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 +3 more
doaj +2 more sources
Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant [PDF]
BMC Neurology, 2020 Background To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation.
Rosaria Nardello +7 more
doaj +2 more sources
Case report of novel gene mutation causing episodic ataxia type 2 [PDF]
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 +3 more
doaj +2 more sources
A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2 [PDF]
Case Reports in Neurological Medicine, 2018 Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated.
Sean Lance, Stuart Mossman, Gemma Poke
doaj +2 more sources
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A [PDF]
Human Genome VariationAutosomal dominant episodic ataxia type 2 (EA2) is caused by variants in CACNA1A. We examined a 20-year-old male with EA symptoms from a Japanese family with hereditary EA.
Shiroh Miura +10 more
doaj +2 more sources
Aberrant cerebellar Purkinje cell activity as the cause of motor attacks in a mouse model of episodic ataxia type 2 [PDF]
Disease Models & Mechanisms, 2018 Many cerebellar-induced neurological disorders, such as ataxias and cerebellar-induced dystonias, are associated with abnormal Purkinje cell activity. In tottering mice, a well-established mouse model of episodic ataxia type 2 (EA2), cerebellar Purkinje ...
Esra Tara +3 more
doaj +2 more sources
Pin1 promotes human CaV2.1 channel polyubiquitination by RNF138: pathophysiological implication for episodic ataxia type 2 [PDF]
Cell Communication and SignalingLoss-of-function mutations in the human gene encoding the neuron-specific Ca2+ channel CaV2.1 are linked to the neurological disease episodic ataxia type 2 (EA2), as well as neurodevelopmental disorders such as developmental delay and developmental ...
Ssu-Ju Fu +5 more
doaj +2 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 +2 more
exaly +3 more sources