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index medicus (113) 113
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paroxysmal kinesigenic dyskinesia (90) 90
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episodic ataxia (17) 17
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genetics (16) 16
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nervous system diseases (13) 13
proline-rich transmembrane protein 2 (13) 13
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genetic predisposition to disease (12) 12
medicine & public health (12) 12
movement-disorders (12) 12
pkd (12) 12
animals (11) 11
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Journal Article
Revue Neurologique, ISSN 0035-3787, 04/2016, Volume 172, pp. A119 - A120
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 02/2019, Volume 90, Issue 2, pp. 227 - 234
Paroxysmal dyskinesias (PxD) refer to a rare group of clinically and genetically heterogeneous disorders presenting with recurrent attacks of abnormal... 
PKD | GLUT1 | PNKD | PRRT2 | PED | Neurology | Genotype & phenotype | Convulsions & seizures | Epilepsy | Classification | Genetics | Mutation
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 07/2016, Volume 31, Issue 8, pp. 1057 - 1061
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 05/2019, Volume 62, pp. 134 - 140
The pathophysiologic mechanism of paroxysmal kinesigenic dyskinesia (PKD) is largely unclear. Basal ganglia-thalamo-cortical circuit involvement is thought to... 
PRRT2 mutations | Corticospinal tract | Gray matter volume | Paroxysmal kinesigenic dyskinesia | Motor symptoms | PRRT2 | GANGLIA | MRI | CLINICAL NEUROLOGY | DEGENERATION | STATE FUNCTIONAL CONNECTIVITY | INHIBITION | ROLES | SPATIAL STATISTICS | PERFUSION | Physiological aspects | Neurosciences | Movement disorders
Journal Article
Epilepsia, ISSN 0013-9580, 03/2013, Volume 54, Issue 3, pp. 425 - 436
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 06/2018, Volume 60, Issue 6, pp. 559 - 565
A growing number of genes have been associated with classic and newly described paroxysmal movement disorders. Paroxysmal movement disorders share common... 
PRRT2 MUTATIONS | DIAGNOSIS | EPISODIC ATAXIAS | SEIZURES | KINESIGENIC CHOREOATHETOSIS | NONKINESIGENIC DYSKINESIA | PEDIATRICS | DYSTONIA | DEFICIENCY | CLINICAL NEUROLOGY
Journal Article
Seizure: European Journal of Epilepsy, ISSN 1059-1311, 10/2019, Volume 71, pp. 1 - 5
This study was performed to clarify the clinical features of Japanese patients with mutations. The gene was analyzed in 135 patients with benign infantile... 
Febrile seizures | PRRT2 | Benign infantile epilepsy | Paroxysmal kinesigenic dyskinesia | Convulsion with gastroenteritis
Journal Article
Revue Neurologique, ISSN 0035-3787, 04/2014, Volume 170, pp. A62 - A63
Journal Article