Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
about
The clinical and genetic heterogeneity of paroxysmal dyskinesias.Genetics in dystonia: an updatePRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation.PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patientFive cases of paroxysmal kinesigenic dyskinesia by genetic diagnosisPRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.The use of next-generation sequencing in movement disordersThe next generation of target capture technologies - large DNA fragment enrichment and sequencing determines regional genomic variation of high complexityMild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.PRRT2 links infantile convulsions and paroxysmal dyskinesia with migrainePRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia.Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.The genetics of dystonias.Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells.PRRT2-related disorders: further PKD and ICCA cases and review of the literature.PRRT2 mutations and paroxysmal disorders.The genetics of dystonia: new twists in an old tale.Genetics of movement disorders in the next-generation sequencing era.The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutationsIdentification 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.Successful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation.Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.PRRT2 gene mutations in familial and sporadic paroxysmal kinesigenic dyskinesia cases.Altered intrinsic brain activity in patients with paroxysmal kinesigenic dyskinesia by PRRT2 mutation: altered brain activity by PRRT2 mutation.PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China.PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia.Altered inhibitory modulation of somatosensory cortices in paroxysmal kinesigenic dyskinesia.PRRT2 mutations are the major cause of benign familial infantile seizures.
P2860
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P2860
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
description
2012 nî lūn-bûn
@nan
2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Targeted genomic sequencing id ...... al kinesigenic choreoathetosis
@ast
Targeted genomic sequencing id ...... al kinesigenic choreoathetosis
@en
Targeted genomic sequencing id ...... al kinesigenic choreoathetosis
@nl
type
label
Targeted genomic sequencing id ...... al kinesigenic choreoathetosis
@ast
Targeted genomic sequencing id ...... al kinesigenic choreoathetosis
@en
Targeted genomic sequencing id ...... al kinesigenic choreoathetosis
@nl
prefLabel
Targeted genomic sequencing id ...... al kinesigenic choreoathetosis
@ast
Targeted genomic sequencing id ...... al kinesigenic choreoathetosis
@en
Targeted genomic sequencing id ...... al kinesigenic choreoathetosis
@nl
P2093
P2860
P3181
P1476
Targeted genomic sequencing id ...... al kinesigenic choreoathetosis
@en
P2093
Fenghe Niu
Jingyun Li
Xiaopan Wu
P2860
P3181
P356
10.1136/JMEDGENET-2011-100635
P407
P577
2012-02-01T00:00:00Z