Ontology highlight
ABSTRACT:
SUBMITTER: Yu Y
PROVIDER: S-EPMC7683776 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Yu Yoshihiko Y Hasegawa Daisuke D Chambers James K JK Kojima Kazuhiro K Asada Rikako R Johnson Gary S GS Uchida Kazuyuki K
Frontiers in veterinary science 20201110
Neonatal encephalopathy with seizures (NEwS) is an epileptic encephalopathy with an autosomal recessive inheritance pattern found in Standard Poodle puppies. The causal genetic variant for NEwS has been identified as a homozygous missense mutation in <i>ATF2</i> (c.152T>G, p.Met51Arg), and a pathological cerebellar change has been reported. Magnetic resonance imaging showed reduced whole-brain size, dilated ventricles, developmental abnormalities of the white matter of the cerebrum, white matter ...[more]