A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2)

PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling

(2015) Ming Li et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia

(2014) Li Wu et al.   PARKINSONISM & RELATED DISORDERS

A Membrane Topology Model for Human Interferon Inducible Transmembrane Protein 1

(2014) Stuart Weston et al.   PLoS One

PRRT2mutations and paroxysmal disorders

(2013) A. Méneret et al.   EUROPEAN JOURNAL OF NEUROLOGY

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

(2013) Anna Corradi et al.   HUMAN MOLECULAR GENETICS

Interferon-induced Transmembrane Protein 3 Is a Type II Transmembrane Protein

(2013) Charles C. Bailey et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

(2013) Sarah E Heron et al.   JOURNAL OF MEDICAL GENETICS

PRRT2-related disorders: further PKD and ICCA cases and review of the literature

(2013) Felicitas Becker et al.   JOURNAL OF NEUROLOGY

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

(2012) Sarah E. Heron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular machines governing exocytosis of synaptic vesicles

(2012) Reinhard Jahn et al.   NATURE

Expanding the spectrum of neurological disorders associated with PRRT2 mutations

(2012) Heather Wood   Nature Reviews Neurology

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

(2012) I. E. Scheffer et al.   NEUROLOGY

Paroxysmal disorders associated with PRRT2 mutations shake up expectations on ion channel genes

(2012) R. Guerrini et al.   NEUROLOGY

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

(2012) C. Marini et al.   NEUROLOGY

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

(2012) R. Cloarec et al.   NEUROLOGY

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

(2012) A. R. Gardiner et al.   NEUROLOGY

PRRT2 mutation causes benign familial infantile convulsions

(2012) B. de Vries et al.   NEUROLOGY

PRRT2 mutations cause hemiplegic migraine

(2012) F. Riant et al.   NEUROLOGY

High-Resolution Proteomics Unravel Architecture and Molecular Diversity of Native AMPA Receptor Complexes

(2012) Jochen Schwenk et al.   NEURON

The Dispanins: A Novel Gene Family of Ancient Origin That Contains 14 Human Members

(2012) Markus Sällman Almén et al.   PLoS One

Synaptic Vesicle Endocytosis

(2012) Y. Saheki et al.   Cold Spring Harbor Perspectives in Biology

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

(2012) Hsien-Yang Lee et al.   Cell Reports

Cadherin-catenin adhesion complexes at the synapse

(2011) G Stefano Brigidi et al.   CURRENT OPINION IN NEUROBIOLOGY

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

(2011) Wan-Jin Chen et al.   NATURE GENETICS

The dual role of the extracellular matrix in synaptic plasticity and homeostasis

(2010) Alexander Dityatev et al.   NATURE REVIEWS NEUROSCIENCE

CHARMM: The biomolecular simulation program

(2009) B. R. Brooks et al.   JOURNAL OF COMPUTATIONAL CHEMISTRY

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

QMEAN: A comprehensive scoring function for model quality assessment

(2007) Pascal Benkert et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS