Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation

Journal of Child Neurology

Volumn 25, Issue 7, 2010, Pages 892-897

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

^a TEL AVIV UNIVERSITY   (Israel)

Author keywords

ataxia; CACNA1A; coma

Indexed keywords

ARGININE; CALCIUM CHANNEL; GLUTAMINE; PHENYTOIN; PROTEIN CACNA1A; UNCLASSIFIED DRUG; CACNA1A PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTONOMIC DYSFUNCTION; BLOOD ANALYSIS; BRAIN; BRAIN EDEMA; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHILD; CLONIC SEIZURE; COGNITION; COMA; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; DYSKINESIA; ELECTROENCEPHALOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; HEAD INJURY; HEMICLONIC CONVULSION; HISTOPATHOLOGY; HUMAN; INTELLIGENCE QUOTIENT; LABORATORY TEST; MALE; MENTAL DEFICIENCY; METABOLIC PARAMETERS; MOTOR DYSFUNCTION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; ONSET AGE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RECURRENT DISEASE; RIGHT HEMISPHERE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; COMPLICATION; DNA SEQUENCE; GENETICS; INTELLECTUAL IMPAIRMENT; MISSENSE MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; SKELETAL MUSCLE;

BRAIN; CALCIUM CHANNELS; CEREBELLAR ATAXIA; CHILD; COMA; CRANIOCEREBRAL TRAUMA; DYSKINESIAS; ELECTROENCEPHALOGRAPHY; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE, SKELETAL; MUTATION, MISSENSE; RECURRENCE; SEQUENCE ANALYSIS, DNA;

EID: 77954404280     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809351316     Document Type: Article

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