PRRT 2 missense mutations cluster near C‐terminus and frequently lead to protein mislocalization
出版年份 2019 全文链接
标题
PRRT
2
missense mutations cluster near C‐terminus and frequently lead to protein mislocalization
作者
关键词
-
出版物
EPILEPSIA
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2019-04-13
DOI
10.1111/epi.14725
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A novel topology of proline-rich transmembrane protein 2 (PRRT2): Hints for an intracellular function at the synapse.
- (2018) Pia Rossi et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel
- (2018) Meng-Han Tsai et al. Frontiers in Neurology
- Using high-resolution variant frequencies to empower clinical genome interpretation
- (2017) Nicola Whiffin et al. GENETICS IN MEDICINE
- The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations
- (2017) Caterina Michetti et al. NEUROBIOLOGY OF DISEASE
- A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2)
- (2016) Pia Rossi et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- PRRT2 Is a Key Component of the Ca 2+ -Dependent Neurotransmitter Release Machinery
- (2016) Pierluigi Valente et al. Cell Reports
- PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
- (2015) Yongwook Choi et al. BIOINFORMATICS
- The evolving spectrum ofPRRT2-associated paroxysmal diseases
- (2015) Darius Ebrahimi-Fakhari et al. BRAIN
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling
- (2015) Ming Li et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- PRRT2-related disorders: further PKD and ICCA cases and review of the literature
- (2013) Felicitas Becker et al. JOURNAL OF NEUROLOGY
- A Mutation Hot-Spot for Benign Infantile Epilepsy
- (2013) Jennifer Kearney Epilepsy Currents
- PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
- (2012) Sarah E. Heron et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PRRT2 mutation in Japanese children with benign infantile epilepsy
- (2012) Akihisa Okumura et al. BRAIN & DEVELOPMENT
- NovelPRRT2mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes
- (2012) X.-R. Liu et al. GENES BRAIN AND BEHAVIOR
- PRRT2 Mutations are the major cause of benign familial infantile seizures
- (2012) Julian Schubert et al. HUMAN MUTATION
- Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
- (2012) Shinji Ono et al. JOURNAL OF HUMAN GENETICS
- PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures
- (2012) I. E. Scheffer et al. NEUROLOGY
- Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance
- (2012) J. Friedman et al. NEUROLOGY
- PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
- (2012) C. Marini et al. NEUROLOGY
- PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine
- (2012) A. R. Gardiner et al. NEUROLOGY
- PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions
- (2012) R. van Vliet et al. NEUROLOGY
- Missense mutations of the proline-rich transmembrane protein 2 gene cosegregate with mild paroxysmal kinesigenic dyskinesia and infantile convulsions in a Chinese pedigree
- (2012) Chunquan Cai et al. PARKINSONISM & RELATED DISORDERS
- PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort
- (2012) Yi-Chung Lee et al. PLoS One
- The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions
- (2012) Ortrud K. Steinlein et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
- (2012) Hsien-Yang Lee et al. Cell Reports
- Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
- (2011) J.-L. Wang et al. BRAIN
- Targeted genomic sequencing identifiesPRRT2mutations as a cause of paroxysmal kinesigenic choreoathetosis
- (2011) Jingyun Li et al. JOURNAL OF MEDICAL GENETICS
- Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
- (2011) Wan-Jin Chen et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now