A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. [electronic resource]
Producer: 20150422Description: 840-3 p. digitalISSN:- 1468-330X
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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