Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene

Pediatric Neurology

Volumn 45, Issue 5, 2011, Pages 328-330

  Naik, Swati ^a   Pohl, Keith ^b   Malik, Mohsin ^c   Siddiqui, Ata ^d   Josifova, Dragana ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c EAST KENT HOSPITALS UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^d GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; ALPHA TOCOPHEROL; CACNA1A PROTEIN; CYANOCOBALAMIN; FOLIC ACID; GENOMIC DNA; IMMUNOGLOBULIN; METHIONINE; PROTEIN; THREONINE; TRANSFERRIN; UNCLASSIFIED DRUG; URATE; UREA;

ARTICLE; BLOOD CELL COUNT; BODY WEIGHT; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHILD; CHILDHOOD DISEASE; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CONSULTATION; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE DURATION; FAMILIAL HEMIPLEGIC MIGRAINE; FAMILY HISTORY; FOLIC ACID BLOOD LEVEL; GENE MUTATION; GENETIC ASSOCIATION; HEAD CIRCUMFERENCE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; MALE; MIGRAINE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RECURRENT DISEASE; RELATIVE; SEQUENCE ANALYSIS; SPEECH DISORDER; THYROID FUNCTION TEST; TRANSFERRIN BLOOD LEVEL; UREA BLOOD LEVEL; URIC ACID BLOOD LEVEL; VITAMIN BLOOD LEVEL;

CALCIUM CHANNELS; CHILD, PRESCHOOL; HUMANS; MALE; MYOCLONIC CEREBELLAR DYSSYNERGIA; PEDIGREE; POINT MUTATION;

EID: 80054090555     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2011.08.002     Document Type: Article

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