An adult female with proline-rich transmembrane protein 2 related paroxysmal disorders manifesting paroxysmal kinesigenic choreoathetosis and epileptic seizures-Reference-Cited by-同舟云学术

An adult female with proline-rich transmembrane protein 2 related paroxysmal disorders manifesting paroxysmal kinesigenic choreoathetosis and epileptic seizures

Published:2019 Issue:3 Volume:59 Page:144-148
ISSN:0009-918X
Container-title:Rinsho Shinkeigaku
language:en
Short-container-title:Rinsho Shinkeigaku

Author:

Tanabe Yasuto¹²,Taira Takumi¹,Shimotake Akihiro³,Inoue Takeshi¹⁴,Awaya Tomonari⁵⁶,Kato Takeo⁵⁷,Kuzuya Akira¹,Ikeda Akio³,Takahashi Ryosuke¹

Affiliation:

1. Department of Neurology, Kyoto University Graduate School of Medicine

2. Present address: Department of Neurology, Osaka Saiseikai Nakatsu Hospital

3. Department of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine

4. Present address: Department of Pediatric Neurology, Osaka City General Hospital

5. Department of Pediatrics, Kyoto University Graduate School of Medicine

6. Present address: Department of Anatomy and Developmental Biology, Drug Discovery Department for Skin and Brain Disorders, Kyoto University Graduate School of Medicine

7. Present address: Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center

Publisher

Societas Neurologica Japonica

Subject

Clinical Neurology

Link

https://www.jstage.jst.go.jp/article/clinicalneurol/59/3/59_cn-001228/_pdf

Reference19 articles.

1. 1) Valtorta F, Benfenati F, Zara F, et al. PRRT2: from Paroxysmal disorders to regulation of synaptic function. Trends Neurosci 2016;39:668-679.

2. 2) Ebrahimi-Fakhari D, Saffari A, Westenberger A, et al. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain 2015;138:3476-3495.

3. 3) Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004;63:2280-2287.

4. 4) Kato N, Sadamatsu M, Kikuchi T, et al. Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions. Epilepsy Res 2006;70 Suppl 1:S174-184.

5. 6) Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011;43:1252-1255.

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1. Case Report: A Case of Concomitant Paroxysmal Kinesigenic Dyskinesia and Epilepsy: Can We Treat Two Birds With One Stone?;Frontiers in Neurology;2022-02-02

2. PRRT2 Related Epilepsies: A Gene Review;Journal of Pediatric Neurology;2021-05-21

3. TMP- SSurface2: A Novel Deep Learning-Based Surface Accessibility Predictor for Transmembrane Protein Sequence;Frontiers in Genetics;2021-03-15

4. Advances in genetic testing and optimization of clinical management in children and adults with epilepsy;Expert Review of Neurotherapeutics;2020-01-27

5. TM-ZC: A Deep Learning-Based Predictor for the Z-Coordinate of Residues in α-Helical Transmembrane Proteins;IEEE Access;2020