Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.
about
Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese familyPhenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosisGenetics of hereditary neurological disorders in childrenMutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.The evolving spectrum of PRRT2-associated paroxysmal diseases.Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population.Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation.Familial Paroxysmal Kinesigenic Dyskinesia is associated with mutations in the KCNA1 gene.PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.Thalamocortical dysconnectivity in paroxysmal kinesigenic dyskinesia: Combining functional magnetic resonance imaging and diffusion tensor imaging.Missense mutations ofmitofusin 2in axonal Charcot–Marie–Tooth neuropathy: polymorphic or incomplete penetration?
P2860
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P2860
Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Novel PRRT2 mutations in parox ...... nt inheritance and phenotypes.
@en
Novel PRRT2 mutations in parox ...... nt inheritance and phenotypes.
@nl
type
label
Novel PRRT2 mutations in parox ...... nt inheritance and phenotypes.
@en
Novel PRRT2 mutations in parox ...... nt inheritance and phenotypes.
@nl
prefLabel
Novel PRRT2 mutations in parox ...... nt inheritance and phenotypes.
@en
Novel PRRT2 mutations in parox ...... nt inheritance and phenotypes.
@nl
P2093
P2860
P356
P1476
Novel PRRT2 mutations in parox ...... nt inheritance and phenotypes.
@en
P2093
P2860
P304
P356
10.1111/GBB.12008
P407
P577
2012-12-21T00:00:00Z