Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0013421 (
dystonia
)
8,418
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition characterized by recurrent brief episodes of
dystonia
, chorea, athetosis or any combination of these, without alterations of consciousness. The
proline-rich transmembrane protein 2
(
PRRT2
) gene has been widely investigated as a causative gene of PKD. To date, a cluster of pathogenic variants associated with PKD have been identified in the
PRRT2
gene. In the present case report, two Chinese patients with sporadic PKD are discussed. Genetic analysis revealed a
de novo
heterozygous missense mutation, c.955G>T (p.Val319Leu) in exon 3 of the
PRRT2
gene. Compared with the commonly reported clinical manifestation of PRRT2-associated PKD, the patients in this report showed several primary distinctive features. The mutations identified in the present analysis expand upon the mutation spectrum of the
PRRT2
gene, and this newly found variant further reinforces the importance of the
PRR2
gene in PKD.
...
PMID:Novel mutation of the
PRRT2
gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports. 3234 75
