The Genetics of Benign Paroxysmal Torticollis of Infancy

The evolving spectrum ofPRRT2-associated paroxysmal diseases

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A

(2015) Lubov Blumkin et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Migraine pathophysiology: lessons from mouse models and human genetics

(2015) Michel D Ferrari et al.   LANCET NEUROLOGY

A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy

(2014) Marta Vila-Pueyo et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

PRRT2mutations and paroxysmal disorders

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

Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine

(2012) RUSSELL C DALE et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The Neurology of Benign Paroxysmal Torticollis of Infancy: Report of 10 New Cases and Review of the Literature

(2009) N. Paul Rosman et al.   JOURNAL OF CHILD NEUROLOGY

The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition

(2009) Selma A. Serra et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes

(2008) E Cuenca-León et al.   CEPHALALGIA

Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family

(2008) A. Roubertie et al.   JOURNAL OF NEUROLOGY