نتایج جستجو برای: episodic ataxia type 2
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how to cite this article: shervin badv r, niksirat a. downward vertical gaze palsy as a prominent manifestation of episodic ataxia type 2: a case report. iran j child neurol. 2013 autumn; 7(4):58- 60. objective episodic ataxia type 2 (ea2) is an inherited autosomal dominant disorder characterized by intermittent ataxia, nausea, vomiting, dysarthria, or nystagmus. we report a case of ea2, whic...
A recent study shows that rats remember multiple details of an event in a way that suggests those details are bound into episodic memories that the rats use when faced with a foraging task.
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 episodic ataxia type 2, although 30%-50% of all patients with typical episodic ataxia type 2 phenotype have no detectable mutation of the CACNA...
Mutations of voltage gated calcium channels are commonly associated with episodic ataxia. There has been no case reports in the literature that describe anon-episodic presentation of ataxia in patients affected with this mutation. This current case report describes a 61-year-old female patient with progressive ataxia and mutations that commonly cause an episodic ataxia. ABBREVIATIONS EA2: Episo...
Episodic ataxia type 1 is a rare, autosomal dominant neurological disorder caused by missense mutations of the Kv1.1 gene from the Shaker K channel subfamily. To study the functional effects of the disease-causing mutations in a robust K channel background, we introduced seven different episodic ataxia type 1 substitutions into the corresponding, conserved residues of the Shaker K channel. K ch...
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