PRRT 2 missense mutations cluster near C‐terminus and frequently lead to protein mislocalization-Reference-Cited by-同舟云学术

PRRT 2 missense mutations cluster near C‐terminus and frequently lead to protein mislocalization

Published:2019-04-13 Issue:5 Volume:60 Page:807-817
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Tsai Meng‐Han¹^ORCID,Nian Fang‐Shin²³,Hsu Mei‐Hsin⁴,Liu Wei‐Szu⁵,Liu Yo‐Tsen²⁶⁷⁸,Liu Chen²,Lin Po‐Hsi⁷,Hwang Daw‐Yang⁹,Chuang Yao‐Chung¹,Tsai Jin‐Wu²⁸¹⁰^ORCID

Affiliation:

1. Department of NeurologyCollege of MedicineKaohsiung Chang Gung Memorial HospitalChang Gung University Kaohsiung Taiwan

2. Institute of Brain ScienceSchool of MedicineNational Yang‐Ming University Taipei Taiwan

3. Program in Molecular MedicineNational Yang‐Ming University and Academia Sinica Taipei Taiwan

4. Department of PediatricsKaohsiung Chang Gung Memorial Hospital Kaohsiung Taiwan

5. Department of Life SciencesNational Yang‐Ming University Taipei Taiwan

6. Department of NeurologyNeurological InstituteTaipei Veterans General Hospital Taipei Taiwan

7. Department of MedicineSchool of MedicineNational Yang‐Ming University Taipei Taiwan

8. Brain Research CenterNational Yang‐Ming University Taipei Taiwan

9. Division of NephrologyKaohsiung Medical University HospitalKaohsiung Medical University Kaohsiung Taiwan

10. Biophotonics and Molecular Imaging Research CenterNational Yang‐Ming University Taipei Taiwan

Funder

Chang Gung Medical Foundation

Ministry of Science and Technology, Taiwan

University System of Taiwan

Taipei Veterans General Hospital

National Health Research Institutes

Academia Sinica

National Yang-Ming University

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.14725

Reference37 articles.

1. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

2. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

3. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

4. PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

5. PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

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