Article

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

2021-03-18

Abstract excerpt

<title>Abstract</title> <p>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 to 12 weeks of age and progressed rapidly to <italic>status epilepticus</italic> and death or euthanasia. Histopathological changes at autopsy were restricted to the b...

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Literature Corpus work: e8ee4f33-3c20-5a4e-9def-8c56f92d960b
DOI: 10.21203/rs.3.rs-310700/v1

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