Neonatal encephalopathy with seizures (NEWS)

The neonatal encephalopathy (NEWS) is a malformation of the cerebellum. Affected puppies are... more
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.
Тип наследования
autosomal recessive
Длительность теста
3 - 5 day after arrival of the sample in the lab (in case of sequencing 1-2 weeks)
Мы являемся членом
Мы на