Linked Life Data

15159495

Source:http://linkedlifedata.com/resource/pubmed/id/15159495

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2004-5-25
pubmed:abstractText
A1A2 Na+/K+-ATPase mutations cause familial hemiplegic migraine type 2 (FHM2). The authors identified three putative A1A2 mutations (D718N, R763H, P979L) and three that await validation (P796R, E902K, X1021R). Ten to 20% of FHM cases may be FHM2. A1A2 mutations have a penetrance of about 87%. D718N causes frequent, long-lasting HM, and P979L may cause recurrent coma. D718N and P979L may predispose to seizures and mental retardation. A1A2 does not play a major role in sporadic HM; only one variant, R383H, occurred in 1 of 24 cases.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1526-632X
pubmed:author
pubmed:issnType
Electronic
pubmed:day
25
pubmed:volume
62
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1857-61
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:15159495-Adolescent, pubmed-meshheading:15159495-Adult, pubmed-meshheading:15159495-Aged, pubmed-meshheading:15159495-Aged, 80 and over, pubmed-meshheading:15159495-Amino Acid Sequence, pubmed-meshheading:15159495-Amino Acid Substitution, pubmed-meshheading:15159495-Coma, pubmed-meshheading:15159495-DNA Mutational Analysis, pubmed-meshheading:15159495-Epilepsy, pubmed-meshheading:15159495-Female, pubmed-meshheading:15159495-Genetic Predisposition to Disease, pubmed-meshheading:15159495-Genotype, pubmed-meshheading:15159495-Hemiplegia, pubmed-meshheading:15159495-Humans, pubmed-meshheading:15159495-Intellectual Disability, pubmed-meshheading:15159495-Male, pubmed-meshheading:15159495-Middle Aged, pubmed-meshheading:15159495-Migraine Disorders, pubmed-meshheading:15159495-Models, Molecular, pubmed-meshheading:15159495-Molecular Sequence Data, pubmed-meshheading:15159495-Mutation, Missense, pubmed-meshheading:15159495-Penetrance, pubmed-meshheading:15159495-Phenotype, pubmed-meshheading:15159495-Point Mutation, pubmed-meshheading:15159495-Recurrence, pubmed-meshheading:15159495-Sequence Alignment, pubmed-meshheading:15159495-Sequence Homology, Amino Acid, pubmed-meshheading:15159495-Sodium-Potassium-Exchanging ATPase
pubmed:year
2004
pubmed:articleTitle
Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants.
pubmed:affiliation
Department of Applied Physiology, Ulm University, Germany. karin.jurkat-rott@medizin.uni-ulm.de
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't