Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: A novel GLUT-1 mutation with benign phenotype

Parkinsonism and Related Disorders

Volumn 17, Issue 6, 2011, Pages 479-481

  Bovi, Tommaso ^a   Fasano, Alfonso ^b   Juergenson, Ina ^a   Gellera, Cinzia ^c   Castellotti, Barbara ^c   Fontana, Elena ^a   Tinazzi, Michele ^a  

^a UNIVERSITY HOSPITAL OF VERONA   (Italy)

^b IRCCS NEUROMED   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Epilepsy; GLUT 1 deficiency syndrome; Paroxysmal exercise induced dystonia

Indexed keywords

CARBAMAZEPINE; DNA; GLUCOSE TRANSPORTER 1;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; DISEASE DURATION; DNA EXTRACTION; DYSKINESIA; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; FACIAL EXPRESSION; FATIGUE; FEMALE; FOCAL EPILEPSY; GAZE PARALYSIS; GENE MUTATION; HETEROZYGOSITY; HUMAN; LEG CRAMP; MIOSIS; MUSCLE HYPOTONIA; MUTATOR GENE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SLC2A1 GENE; TACHYCARDIA; TACHYPNEA; TONIC CLONIC SEIZURE; VISUAL HALLUCINATION;

ADULT; CHOREA; EPILEPSY, PARTIAL, MOTOR; EXCITATORY AMINO ACID TRANSPORTER 2; EXERCISE; FEMALE; HUMANS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 79959364690     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2011.03.015     Document Type: Article

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