Pontocerebellar hypoplasia caused by the <i>TSEN54</i> mutation: clinical and electroencephalographic characteristics based on 3 cases

Pontocerebellar hypoplasia caused by the TSEN54 mutation is a severe hereditary disease with an autosomal recessive mode of inheritance, which is characterized by a combination of epileptic encephalopathy, motor disorders in the form of spasticity and hyperknesis, dysphagia and central respiratory f...

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Bibliographic Details

Published in:	Русский журнал детской неврологии
Main Authors:	M. Yu. Bobylova, M. O. Abramov, K. Yu. Mukhin
Format:	Article
Language:	Russian
Published:	ABV-press 2024-07-01
Subjects:	pontocerebellar hypoplasia <i>tsen54</i> mutation epilepsy hyperkinesis video electroencephalographic monitoring epileptic-dyskinetic encephalopathy developmental and epileptic encephalopathy with spike-wave activation in sleep
Online Access:	https://rjdn.abvpress.ru/jour/article/view/474