Neonatal encephalopathy with seizures (NEWS)

LABOKLIN Service ID: 8155

The neonatal encephalopathy (NEWS) is a malformation of the cerebellum caused by a mutation in the CFA36 gene in poodles. This gene encodes the activating transcription factor 2 (ATF-2). If homozygous, dogs posses a smaller, frequently dysplastic cerebellum. Affected puppies are relatively small and weak and they often die within the first weeks of their live. Those surviving this phase develop ataxia and tremor and by 4 to 6 weeks of age severe generalized tonic-clonic seizures which can not be treated therapeutically. None of them survived to eighth week of life.

Method

TaqMan SNP assay, if necessary sequencing

Breed list

Poodle

Heredity

autosomal recessive

Duration

3 - 5 day after arrival of the sample in the lab (in case of sequencing 1-2 weeks)