Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference17 articles.
1. A novel topology of proline-rich transmembrane protein 2 (PRRT2): hints for an intracellular function at the synapse;Rossi;J. Biol. Chem.,2018
2. PRRT2: from paroxysmal disorders to regulation of synaptic function;Valtorta;Trends Neurosci.,2016
3. PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity;Fruscione;Brain,2018
4. The evolving spectrum of PRRT2-associated paroxysmal diseases;Ebrahimi-Fakhari;Brain,2015
5. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia;Chen;Nat. Genet.,2011
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