Associated Papers
Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal.
Scorrano G et al.
Seizure, 2024
Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation.
Deng Y et al.
Pediatric Investigation, 2022
[Clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation].
Chen CH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population.
Che XQ et al.
The International Journal of Neuroscience, 2017
A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE.
Rossi P et al.
The Journal of Biological Chemistry, 2016
Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family.
Weber A et al.
Bmc Medical Genetics, 2016
[Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy].
Yang X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Successful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation.
Chou IC et al.
Biomedicine, 2014
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.
Yang X et al.
Bmc Neurology, 2013
Altered intrinsic brain activity in patients with paroxysmal kinesigenic dyskinesia by PRRT2 mutation: altered brain activity by PRRT2 mutation.
Luo C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2013
Episodic movement disorders: from phenotype to genotype and back.
Brockmann K
Current Neurology and Neuroscience Reports, 2013
Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases.
Wang JL et al.
Neuroscience Letters, 2013
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.
Heron SE et al.
Epilepsia, 2013
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Heron SE et al.
Journal of Medical Genetics, 2013
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Scheffer IE et al.
Neurology, 2012
PRRT2 mutations are the major cause of benign familial infantile seizures.
Schubert J et al.
Human Mutation, 2012
PRRT2 Gene Mutations in Indian Paroxysmal Kinesigenic Dyskinesia Patients.
Prabhakara S et al.
Annals of Indian Academy of Neurology, 0