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

European Journal of Paediatric Neurology

Volumn 19, Issue 3, 2015, Pages 292-297

  Blumkin, Lubov ^a,b   Leshinsky Silver, Esther ^b   Michelson, Marina ^b   Zerem, Ayelet ^a,b   Kivity, Sara ^a,b   Lev, Dorit ^b   Lerman Sagie, Tally ^a,b  

^a WOLFSON MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

Ataxia; CACNA1A; Paroxysmal tonic upward gaze

Indexed keywords

CACNA1A PROTEIN; PROTEIN; UNCLASSIFIED DRUG; CACNA1A PROTEIN, HUMAN; CALCIUM CHANNEL;

ARTICLE; ATAXIC GAIT; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHILD; CISTERNA MAGNA; CONVERGENT STRABISMUS; DYSARTHRIA; DYSMETRIA; EXOME; EYE MOVEMENT DISORDER; FEMALE; GENE MUTATION; HUMAN; LANGUAGE DELAY; MALE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NYSTAGMUS; OROMANDIBULAR DYSTONIA; PAROXYSMAL TONIC UPWARD GAZE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPEECH DELAY; TORTICOLLIS; TREMOR; UNSTEADINESS; COMPLICATION; GENETICS; INFANT; MUTATION; NEUROLOGIC DISEASE; OCULAR MOTILITY DISORDERS; VERTIGO;

CALCIUM CHANNELS; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MUTATION; NERVOUS SYSTEM DISEASES; OCULAR MOTILITY DISORDERS; VERTIGO;

EID: 84926251224     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2014.12.018     Document Type: Article

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