Associated Papers
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.
Song W et al.
Journal of Medical Genetics, 2024
38964834 (PubMed )
Supplement: jmg-2024-109950supp002.xlsx › __1
Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.
Lu M et al.
American Journal of Medical Genetics. Part A, 2021
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI et al.
Human Mutation, 2020
31898846 (PubMed )
Supplement: NIHMS1618607-supplement-Supplements.pdf
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.
Al Mutairi F et al.
Pediatric Neurology, 2018
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