Linked Life Data

17912752

Source:http://linkedlifedata.com/resource/pubmed/id/17912752

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2008-2-26
pubmed:abstractText
Episodic ataxia type 1 (EA1) is an autosomal-dominant neurological disease caused by point mutations in the potassium channel-encoding gene KCNA1. It is characterized by attacks of ataxia and continuous myokymia. Respiratory muscle involvement has not been previously reported in EA1. We clinically evaluated a family with features of EA1 and paroxysmal shortness of breath. Coding and flanking intronic regions of KCNA1 were sequenced. We identified a novel 3-nucleotide deletion mutation in KCNA1 in the affected individuals. Our findings of a deletion mutation with unusual respiratory muscle involvement expand the genetic and clinical spectrum of EA1.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
37
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
399-402
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
pubmed:affiliation
Neurologic Institute, Neuromuscular Center, Cleveland Clinic, 9500 Euclid Ave., Cleveland, OH 44195, USA.
pubmed:publicationType
Journal Article, Research Support, N.I.H., Extramural