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

Romaniello, Romina

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. [electronic resource] - Journal of neurology, neurosurgery, and psychiatry Aug 2010 - 840-3 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1468-330X

10.1136/jnnp.2008.163402 doi


Age of Onset
Amino Acid Sequence
Brain--pathology
Calcium Channels--genetics
Cerebral Cortex--pathology
Child
DNA Mutational Analysis
Electrodiagnosis
Electroencephalography
Evoked Potentials--physiology
Exons--genetics
Female
Fourth Ventricle--pathology
Humans
Migraine with Aura--etiology
Molecular Sequence Data
Mutation--physiology
Mutation, Missense--genetics
Nervous System Diseases--genetics
Pedigree
Spinocerebellar Ataxias--etiology