A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 81, Issue 8, 2010, Pages 840-843

  Romaniello, Romina ^a   Zucca, Claudio ^a   Tonelli, Alessandra ^a   Bonato, Sara ^a   Baschirotto, Cinzia ^a   Zanotta, Nicoletta ^a   Epifanio, Roberta ^a   Righini, Andrea ^b   Bresolin, Nereo ^a,c   Bassi, Maria T ^a   Borgatti, Renato ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

^b V BUZZI CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BASE; CACNA1A PROTEIN, HUMAN; CALCIUM CHANNEL;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN ATROPHY; BRAIN CORTEX; CACNA1A GENE; CASE REPORT; CEREBELLUM ATROPHY; CHILD; CLINICAL FEATURE; ELECTROENCEPHALOGRAPHY; EVOKED RESPONSE; EXON; FEMALE; GENE; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SCHOOL CHILD; WHITE MATTER; AMINO ACID SEQUENCE; BRAIN; BRAIN FOURTH VENTRICLE; ELECTRODIAGNOSIS; GENETICS; MIGRAINE WITH AURA; MOLECULAR GENETICS; MUTATION; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; SPINOCEREBELLAR ATAXIAS;

AGE OF ONSET; AMINO ACID SEQUENCE; BRAIN; CALCIUM CHANNELS; CEREBRAL CORTEX; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRODIAGNOSIS; ELECTROENCEPHALOGRAPHY; EVOKED POTENTIALS; EXONS; FEMALE; FOURTH VENTRICLE; HUMANS; MIGRAINE WITH AURA; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NERVOUS SYSTEM DISEASES; PEDIGREE; SPINOCEREBELLAR ATAXIAS;

EID: 77955766510     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.163402     Document Type: Article

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