Associated Papers
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Dore R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
ELFN1 is a new extracellular matrix (ECM)-associated protein.
Ayhan S et al.
Life Sciences, 2024
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.
Dursun A et al.
European Journal of Medical Genetics, 2021
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