A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy

A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy

Early infantile epileptic encephalopathies (EIEEs) are a group of neurological disorders characterized by early-onset refractory seizures, severe electroencephalographic abnormalities, and developmental delay or intellectual disability. Recently, genetic studies have indicated that a significant por...

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Bibliographic Details
Main Authors: Valentina Rapaccini, Susanna Esposito, Francesco Strinati, Mariella Allegretti, Elisabetta Manfroi, Francesco Miconi, Mariabernarda Pitzianti, Paolo Prontera, Nicola Principi, Augusto Pasini
Format: Article
Language:English
Published: MDPI AG 2018-07-01
Series:International Journal of Molecular Sciences
Subjects:
early infantile epileptic encephalopathy
nervous system damage
SPTAN1
Online Access:http://www.mdpi.com/1422-0067/19/7/1976

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http://www.mdpi.com/1422-0067/19/7/1976

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