Clinical and electroencephalographic characteristics of neurodegeneration with brain iron accumulation type 5 in children on the example of 5 cases

Neurodegenerative disease with brain iron accumulation type 5 (OMIM: 300894) manifests itself with early-onset epilepsy, mental retardation with stereotypies that resemble Rett syndrome, and motor disorders under the mask of cerebral palsy in childhood; since adolescence, patients usually have aggra...

Full description

Saved in:

Bibliographic Details
Main Authors:	N. Yu. Perunova, M. Yu. Bobylova, T. M. Prygunova
Format:	Article
Language:	Russian
Published:	ABV-press 2020-05-01
Series:	Русский журнал детской неврологии
Subjects:	rare disease hereditary degenerative basal ganglia disease severe childhood epilepsy benign epileptiform discharges of childhood iron accumulation in the globus pallidus and substantia nigra dystonia–parkinsonism levodopa hereditary dementia rett syndrome with iron accumulation in the basal ganglia mutation in the wdr45 gene eye-of-the-tiger sign on magnetic resonance images
Online Access:	https://rjdn.abvpress.ru/jour/article/view/324
Tags:	Add Tag No Tags, Be the first to tag this record!

Be the first to leave a comment!

Clinical and electroencephalographic characteristics of neurodegeneration with brain iron accumulation type 5 in children on the example of 5 cases

Similar Items