Skip to search formSkip to main contentSkip to account menu

PRRT2 gene

Known as: PKC, DKFZp547J199, proline rich transmembrane protein 2 
This gene may play a role in brain and spine development.
National Institutes of Health

Related topics

Related topics

3 relations
PRRT2 protein, humanProtein Kinase C

Narrower (1)

PRRT2 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Synaptic or ion channel modifier? PRRT2 is a chameleon-like regulator of neuronal excitability.
  • H. Lerche
  • Brain : a journal of neurology
  • 2018
  • Corpus ID: 4469320
2016
2016
Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients.
2014
2014
PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia.
2014
2014
Clinico‐genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations
Mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesias (PKD); however, not many… 
2013
2013
Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes
Paroxysmal dyskinesias (PDs) are a group of episodic movement disorders with marked variability in clinical manifestation and… 
2013
2013
PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins.
Review
2013
Review
2013
PRRT2 is mutated in familial and non-familial benign infantile seizures.
2013
2013
Altered intrinsic brain activity in patients with paroxysmal kinesigenic dyskinesia by PRRT2 mutation
The proline-rich transmembrane protein 2 (PRRT2) gene has been recently identified as a causative gene of paroxysmal kinesigenic… 
2012
2012
Paroxysmal disorders associated with PRRT2 mutations shake up expectations on ion channel genes
This issue of Neurology® contains several articles on a single topic: paroxysmal disorders associated with mutations in the PRRT2… 
Highly Cited
2011
Highly Cited
2011
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
Background Paroxysmal kinesigenic choreoathetosis (PKC) is characterised by recurrent and brief attacks of involuntary movement… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)