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

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...

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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
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