Article
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.
European journal of medical genetics - 1 Nov 2021
Dursun Ali, Yalnizoglu Dilek, Yilmaz Didem Yucel, Oguz Kader Karli, Gülbakan Basri, Koşukcu Can, Akar Halil Tuna, Kahraman Ayça Burcu, Acar Neşe Vardar, Günbey Ceren, Yildiz Yilmaz, Ozgul R Koksal
Abstract excerpt
ELFN1, a transmembrane leucine rich repeat protein, is involved in signal transduction in both neural cells and ROD ON-bipolar synaptogenesis. We present three siblings with developmental and epileptic encephalopathy and co-morbidities due to ELFN1 gene mutation; this is the first report in literature defining the human phenotype of ELFN1 gene mutation. Clinical, electrophysiological, and radiological findings...
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