Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.
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DOI: 10.1016/j.ejmg.2021.104340
Abstract: 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… read more here.
Keywords: epileptic encephalopathy; joint laxity; elfn1 gene; gene ... See more keywords