In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

We investigated the clinical, genetic, and pathological characteristics of a previously unknown severe juvenile brain disorder in several litters of Parson Russel Terriers. The disease started with epileptic seizures at 6–12 weeks of age and progressed rapidly to status epilepticus and death or euth...

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Detalles Bibliográficos
Autores principales: Hytönen, Marjo K., Sarviaho, Riika, Jackson, Christopher B., Syrjä, Pernilla, Jokinen, Tarja, Matiasek, Kaspar, Rosati, Marco, Dallabona, Cristina, Baruffini, Enrico, Quintero, Ileana, Arumilli, Meharji, Monteuuis, Geoffray, Donner, Jonas, Anttila, Marjukka, Suomalainen, Anu, Bindoff, Laurence A., Lohi, Hannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519929/
https://www.ncbi.nlm.nih.gov/pubmed/33835239
http://dx.doi.org/10.1007/s00439-021-02279-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519929/
https://www.ncbi.nlm.nih.gov/pubmed/33835239
http://dx.doi.org/10.1007/s00439-021-02279-y

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