Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection

Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection

Type 1 lissencephaly is a brain malformation characterized by agyria and pachygyria and is known to be caused by congenital infections and genetic variations. Here we present a case of a 4-month-old female with new onset infantile epileptic spasms syndrome (IESS) with initial etiology concerned for...

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Bibliographic Details
Main Authors: Nga Ying Eng, Duyu A. Nie
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Epilepsy & Behavior Reports
Subjects:
Infantile spasms
Encephalopathy
Cytomegalovirus
Brain malformation
Epilepsy
Online Access:http://www.sciencedirect.com/science/article/pii/S2589986424000212

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http://www.sciencedirect.com/science/article/pii/S2589986424000212

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