Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features i...

Full description

Bibliographic Details
Main Author: N. G. Lyukshina
Format: Article
Language:Russian
Published: ABV-press 2019-07-01
Series:Russkij Žurnal Detskoj Nevrologii
Subjects:
Online Access:https://rjdn.abvpress.ru/jour/article/view/297