The detail information of Ataxia, spinocerebellar, SCN8A-related
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2019

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
There are associated breeds.
Associated Gene
There are no associated genes.
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2019 Letko,A.,Dietschi,E.,Nieburg,M.,Jagannathan,V.,Gurtner,C.,Oevermann,A.,Drögemüller,C.,Letko,A.,Dietschi,E.,Nieburg,M.,Jagannathan,V.,Gurtner,C.,Oevermann,A.,Drögemüller,C.: :
A Missense Variant in <i>SCN8A</i> in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia. Genes (Basel) 10:, 2019.
Pubmed reference: 31083464 . DOI: 10.3390/genes10050362 .