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

J Neurol. 2017 Jul;264(7):1520-1522. doi: 10.1007/s00415-017-8494-z. Epub 2017 Apr 28.

Authors

Alexander Balck¹, Henrike Hanssen^{1

2}, Yorck Hellenbroich³, Katja Lohmann¹, Alexander Münchau⁴

Affiliations

¹ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
² Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.
³ Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
⁴ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. [email protected].

PMID: 28455667
DOI: 10.1007/s00415-017-8494-z

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Adult
Age of Onset
Ataxia / genetics*
Ataxia / physiopathology
Calcium Channels / genetics*
Developmental Disabilities / genetics*
Developmental Disabilities / physiopathology
Humans
Intellectual Disability / genetics*
Intellectual Disability / physiopathology
Male
Mutation, Missense*
Phenotype
Seizures / genetics*
Seizures / physiopathology

Substances

CACNA1A protein, human
Calcium Channels