Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions

Frontiers of Medicine ◽

10.1007/s11684-021-0863-4 ◽

2021 ◽

Author(s):

Yulan Chen ◽

Dianfu Chen ◽

Shaoyun Zhao ◽

Gonglu Liu ◽

Hongfu Li ◽

...

Keyword(s):

Paroxysmal Kinesigenic Dyskinesia

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Functional Movement Disorder in a Family with PRRT2-Associated Paroxysmal Kinesigenic Dyskinesia

Neuropediatrics ◽

10.1055/s-0034-1390588 ◽

2014 ◽

Vol 45 (S 01) ◽

Author(s):

D. Ebrahimi-Fakhari ◽

K. Kang ◽

U. Kotzaeridou ◽

S. Schubert-Bast ◽

J. Kohlhase ◽

...

Keyword(s):

Movement Disorder ◽

Functional Movement ◽

Paroxysmal Kinesigenic Dyskinesia

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Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation

Stem Cell Research ◽

10.1016/j.scr.2021.102210 ◽

2021 ◽

Vol 51 ◽

pp. 102210

Author(s):

Liyuan Fan ◽

Chengyuan Mao ◽

Changhe Shi ◽

Yu Fan ◽

Fen Liu ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Gene Mutation ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Stem Cell Line ◽

Paroxysmal Kinesigenic Dyskinesia ◽

Induced Pluripotent

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G53(P) Paroxysmal kinesigenic dyskinesia; a diagnostic challenge to the general paediatrician

10.1136/archdischild-2020-rcpch.39 ◽

2020 ◽

Author(s):

MBKC Dayasiri ◽

N Weerapperuma ◽

J Wright ◽

G Anand

Keyword(s):

Diagnostic Challenge ◽

Paroxysmal Kinesigenic Dyskinesia ◽

General Paediatrician

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Paroxysmal kinesigenic dyskinesia sans dyskinesia or paroxysmal kinesigenic dysesthesia?

Movement Disorders ◽

10.1002/mds.23077 ◽

2010 ◽

Vol 25 (9) ◽

pp. 1305-1306

Author(s):

Douglas E. Hobson

Keyword(s):

Paroxysmal Kinesigenic Dyskinesia

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Missense mutations of the proline-rich transmembrane protein 2 gene cosegregate with mild paroxysmal kinesigenic dyskinesia and infantile convulsions in a Chinese pedigree

Parkinsonism & Related Disorders ◽

10.1016/j.parkreldis.2012.08.014 ◽

2013 ◽

Vol 19 (3) ◽

pp. 402-403 ◽

Author(s):

Chunquan Cai ◽

Ouyan Shi ◽

Wei-Dong Li

Keyword(s):

Transmembrane Protein ◽

Missense Mutations ◽

Paroxysmal Kinesigenic Dyskinesia

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A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia

Movement Disorders Clinical Practice ◽

10.1002/mdc3.12500 ◽

2017 ◽

Vol 4 (4) ◽

pp. 625-628 ◽

Author(s):

Makoto Kita ◽

Yasuhiro Kuwata ◽

Nagako Murase ◽

Yuichi Akiyama ◽

Takeshi Usui

Keyword(s):

Paroxysmal Kinesigenic Dyskinesia ◽

Acid Protein ◽

Truncation Mutation ◽

Amino Acid Protein

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Paroxysmal Kinesigenic Dyskinesia

Paroxysmal Movement Disorders ◽

10.1007/978-3-030-53721-0_3 ◽

2020 ◽

pp. 37-44

Author(s):

Katarzyna Smilowska ◽

Roberto Erro ◽

Kailash P. Bhatia

Keyword(s):

Paroxysmal Kinesigenic Dyskinesia

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Paroxysmal Kinesigenic Dyskinesia and Infantile Convulsions

Pediatric Neurology Briefs ◽

10.15844/pedneurbriefs-26-11-6 ◽

2012 ◽

Vol 26 (11) ◽

pp. 84

Author(s):

J Gordon Millichap

Keyword(s):

Paroxysmal Kinesigenic Dyskinesia

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Clinical Features of Idiopathic Paroxysmal Kinesigenic Dyskinesia

Pediatric Neurology Briefs ◽

10.15844/pedneurbriefs-18-12-4 ◽

2004 ◽

Vol 18 (12) ◽

pp. 93

Author(s):

J Gordon Millichap

Keyword(s):

Clinical Features ◽

Paroxysmal Kinesigenic Dyskinesia

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Levetiracetam Responsive in Late-Onset Idiopathic Paroxysmal Kinesigenic Dyskinesia

Cyprus Journal of Medical Sciences ◽

10.5152/cjms.2021.1118 ◽

2021 ◽

Vol 6 (1) ◽

pp. 105-106

Author(s):

Senem Ertugrul ◽

◽

Ferda Selcuk ◽

Keyword(s):

Paroxysmal Kinesigenic Dyskinesia

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