Literature DB >> 23165339

Genetics: expanding the spectrum of neurological disorders associated with PRRT2 mutations.

Heather Wood.   

Abstract

Entities:  

Year:  2012        PMID: 23165339     DOI: 10.1038/nrneurol.2012.240

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN: 1759-4758            Impact factor:   42.937


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  5 in total

1.  PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Authors:  Robin Cloarec; Nadine Bruneau; Gabrielle Rudolf; Annick Massacrier; Manal Salmi; Marc Bataillard; Clotilde Boulay; Roberto Caraballo; Natalio Fejerman; Pierre Genton; Edouard Hirsch; Alasdair Hunter; Gaetan Lesca; Jacques Motte; Agathe Roubertie; Damien Sanlaville; Sau-Wei Wong; Ying-Hui Fu; Jacques Rochette; Louis J Ptácek; Pierre Szepetowski
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

2.  PRRT2 mutations cause hemiplegic migraine.

Authors:  Florence Riant; Emmanuel Roze; Cecile Barbance; Aurélie Méneret; Lucie Guyant-Maréchal; Christian Lucas; Pascal Sabouraud; Agnes Trébuchon; Christel Depienne; Elisabeth Tournier-Lasserve
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

3.  PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.

Authors:  Ingrid E Scheffer; Bronwyn E Grinton; Sarah E Heron; Sara Kivity; Zaid Afawi; Xenia Iona; Hadassa Goldberg-Stern; Maria Kinali; Ian Andrews; Renzo Guerrini; Carla Marini; Lynette G Sadleir; Samuel F Berkovic; Leanne M Dibbens
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

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

Authors:  Carla Marini; Valerio Conti; Davide Mei; Domenica Battaglia; Donatella Lettori; Emma Losito; Grazia Bruccini; Gaetano Tortorella; Renzo Guerrini
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

5.  PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.

Authors:  Alice R Gardiner; Kailash P Bhatia; Maria Stamelou; Russell C Dale; Manju A Kurian; Susanne A Schneider; G M Wali; Tim Counihan; Anthony H Schapira; Sian D Spacey; Enza-Maria Valente; Laura Silveira-Moriyama; Hélio A G Teive; Salmo Raskin; Josemir W Sander; Andrew Lees; Tom Warner; Dimitri M Kullmann; Nicholas W Wood; Michael Hanna; Henry Houlden
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

  5 in total
  4 in total

1.  A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Authors:  Eugenia Migliavacca; Christelle Golzio; Katrin Männik; Ian Blumenthal; Edwin C Oh; Louise Harewood; Jack A Kosmicki; Maria Nicla Loviglio; Giuliana Giannuzzi; Loyse Hippolyte; Anne M Maillard; Ali Abdullah Alfaiz; Mieke M van Haelst; Joris Andrieux; James F Gusella; Mark J Daly; Jacques S Beckmann; Sébastien Jacquemont; Michael E Talkowski; Nicholas Katsanis; Alexandre Reymond
Journal:  Am J Hum Genet       Date:  2015-04-30       Impact factor: 11.025

2.  Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.

Authors:  Oriel Carreño; Roser Corominas; Selma Angèlica Serra; Cèlia Sintas; Noèlia Fernández-Castillo; Marta Vila-Pueyo; Claudio Toma; Gemma G Gené; Roser Pons; Miguel Llaneza; María-Jesús Sobrido; Daniel Grinberg; Miguel Ángel Valverde; José Manuel Fernández-Fernández; Alfons Macaya; Bru Cormand
Journal:  Mol Genet Genomic Med       Date:  2013-07-02       Impact factor: 2.183

Review 3.  Genetic and epigenetic mechanisms of epilepsy: a review.

Authors:  Tian Chen; Mohan Giri; Zhenyi Xia; Yadu Nanda Subedi; Yan Li
Journal:  Neuropsychiatr Dis Treat       Date:  2017-07-13       Impact factor: 2.570

4.  A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE.

Authors:  Pia Rossi; Bruno Sterlini; Enrico Castroflorio; Antonella Marte; Franco Onofri; Flavia Valtorta; Luca Maragliano; Anna Corradi; Fabio Benfenati
Journal:  J Biol Chem       Date:  2016-01-21       Impact factor: 5.157

  4 in total

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