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Article

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

International journal of molecular sciences - 6 Jul 2018

Rapaccini Valentina, Esposito Susanna, Strinati Francesco, Allegretti Mariella, Manfroi Elisabetta, Miconi Francesco, Pitzianti Mariabernarda, Prontera Paolo, Principi Nicola, Pasini Augusto

Abstract excerpt

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 portion of previously cryptogenic EIEEs are single-gene disorders. SPTAN1 is among the genes whose mutations are...

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Identifiers

PMID: 29986434
DOI: 10.3390/ijms19071976
PMCID: PMC6073498

Genes

SPTAN1

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A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy.PMID 29986434Read ↗

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Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation.Semantic proximity Read ↗

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