Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder

Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder

Autism spectrum disorders (ASDs) are a group of complex disintegrative disorders of mental development, characterized by a lack of ability to social interaction, communication, stereotyped behavior, leading to social maladaptation. We present a rare clinical case of a delay in psychomotor and speech...

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Bibliographic Details
Main Authors: T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Luk`yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko
Format: Article
Language:Russian
Published: IRBIS LLC 2020-04-01
Series:Эпилепсия и пароксизмальные состояния
Subjects:
epilepsy
epileptic encephalopathy
activity-dependent neuroprotective protein
new generation sequencing
ngs
targeted exomic sequencing
autism spectrum disorders
asd
helsmurtel-van der aa syndrome
Online Access:https://www.epilepsia.su/jour/article/view/519

Internet

https://www.epilepsia.su/jour/article/view/519

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