نتایج جستجو برای: episodic ataxia type 2

تعداد نتایج: 3480788  

Journal: :Neurotherapeutics 2007

Journal: :iranian journal of child neurology 0
reza shervin badv 1. pediatric neurologist, department of pediatrics, zanjan university of medical sciences, zanjan, iran ali niksirat 2. legal medicine research center, legal medicine organization, tehran, iran

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...

Journal: :Current Biology 2014
Michael J. Beran

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.

2017
David Alan Isaacs Michael J Bradshaw Kelly Brown Peter Hedera

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...

2017
Arvin Parvathaneni Joseph H. Friedman

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...

Journal: :American journal of public health 2003
David A Webb Jennifer Culhane Stephan Metraux Jessica M Robbins Dennis Culhane

1999
L. M. BOLAND

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...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید