Adult-onset ataxia or developmental disorder with seizures: Two sides of missense changes in CACNA1A

Medizin & Biologie

• Spinocerebellar Ataxias 100%
• Type 2 Episodic Ataxia 86%
• Ataxia 78%
• Epilepsy 62%
• Migraine Disorders 49%
• Intellectual Disability 46%
• Hunt's syndrome 41%
• Trinucleotide Repeat Expansion 37%
• Population Biological Variation 30%
• Phenotype 29%
• Diplopia 29%
• Mutation 27%
• Genetic Association Studies 26%
• Missense Mutation 25%
• Seizures 19%