4.6 Review

Paroxysmal Dyskinesias Revisited: A Review of 500 Genetically Proven Cases and a New Classification

Related references

Note: Only part of the references are listed.
Review Clinical Neurology

The genetics of dystonia: new twists in an old tale

Gavin Charlesworth et al.

BRAIN (2013)

Article Neurosciences

PRRT2 c.649dupC Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia

Hong-Fu Li et al.

CNS NEUROSCIENCE & THERAPEUTICS (2013)

Review Clinical Neurology

Episodic Movement Disorders: From Phenotype to Genotype and Back

Knut Brockmann

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2013)

Review Clinical Neurology

Primary and secondary dystonic syndromes: an update

Gavin Charlesworth et al.

CURRENT OPINION IN NEUROLOGY (2013)

Article Clinical Neurology

Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study

Anette Ramm-Pettersen et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2013)

Article Clinical Neurology

Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations

Laura Silveira-Moriyama et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2013)

Article Clinical Neurology

PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins

Claudia Castiglioni et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2013)

Article Clinical Neurology

PRRT2 is mutated in familial and non-familial benign infantile seizures

Nicola Specchio et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2013)

Article Behavioral Sciences

Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes

X-R Liu et al.

GENES BRAIN AND BEHAVIOR (2013)

Letter Clinical Neurology

Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation

Una-Marie Sheerin et al.

JOURNAL OF NEUROLOGY (2013)

Article Clinical Neurology

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia

Alexander J. A. Groffen et al.

JOURNAL OF NEUROLOGY (2013)

Review Clinical Neurology

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

Felicitas Becker et al.

JOURNAL OF NEUROLOGY (2013)

Letter Clinical Neurology

Caffeine improved paroxysmal dyskinesia caused by the PRRT2 mutation

Virginie Lambrecq et al.

MOVEMENT DISORDERS (2013)

Review Clinical Neurology

GLUT1 deficiency syndrome 2013: Current state of the art

Valentina De Giorgis et al.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2013)

Article Clinical Neurology

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

Russell C. Dale et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2012)

Article Clinical Neurology

Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: Report of two Southern European families

Roser Pons et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2012)

Article Clinical Neurology

Familial paroxysmal nonkinesigenic dyskinesia: Clinical and genetic analysis of a Taiwanese family

Tu-Hsueh Yeh et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2012)

Editorial Material Clinical Neurology

MILD PAROXYSMAL KINESIGENIC DYSKINESIA CAUSED BY PRRT2 MISSENSE MUTATION WITH REDUCED PENETRANCE

Jennifer Friedman et al.

NEUROLOGY (2012)

Article Clinical Neurology

Allelic Variations of Glut-1 Deficiency Syndrome: The Chinese Experience

Yanyan Liu et al.

PEDIATRIC NEUROLOGY (2012)

Article Clinical Neurology

Glut1 deficiency syndrome and erythrocyte glucose uptake assay

Hong Yang et al.

ANNALS OF NEUROLOGY (2011)

Article Clinical Neurology

Milder phenotypes of glucose transporter type 1 deficiency syndrome

Geetha Anand et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)

Review Clinical Neurology

Paroxysmal Dyskinesias

Kailash P. Bhatia

MOVEMENT DISORDERS (2011)

Article Clinical Neurology

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect

Y. G. Weber et al.

NEUROLOGY (2011)

Article Clinical Neurology

Glut1 Deficiency: Inheritance Pattern Determined by Haploinsufficiency

Michael Rotstein et al.

ANNALS OF NEUROLOGY (2010)

Article Clinical Neurology

GLUT1 Gene Mutations Cause Sporadic Paroxysmal Exercise-Induced Dyskinesias

Susanne A. Schneider et al.

MOVEMENT DISORDERS (2009)

Article Clinical Neurology

A Family With Paroxysmal Nonkinesigenic Dyskinesia: Genetic and Treatment Issues

Krzysztof Szczaluba et al.

PEDIATRIC NEUROLOGY (2009)

Editorial Material Clinical Neurology

Paroxysmal movement disorders in GLUT1 deficiency syndrome

G. Zorzi et al.

NEUROLOGY (2008)

Article Clinical Neurology

Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia

M. K. Bruno et al.

NEUROLOGY (2007)

Article Clinical Neurology

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis

S Rainier et al.

ARCHIVES OF NEUROLOGY (2004)