Article
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2025
Dore Rhys, Chang Chu-Ting, Declève Amber, Brunori Gloria, Ludlam W Grant, Huang Alden, Movahedinia Mojtaba, Damseh Nadirah S, Anwar Ijaz, Vahidi Mehrjardi Mohammad Yahya, Ny Annelii, Khorrami Mehdi, Kheirollahi Majid, Frederiksen Helen, Eghbal Fatemeh, Mirjalili Mohammad Reza, Dehghani Mohammadreza, Karimiani Ehsan Ghayoor, Oreshkov Sergey, Alves Cesar, Striano Pasquale, Suri Mohnish, Martinez-Agosto Julian, Ansar Muhammad, Zahid Muhammad, Akram Samra, Ansar Muhammad, Nelson Stanley F, Antonarakis Stylianos E, Houlden Henry, Copmans Daniëlle, Martemyanov Kirill A, Maroofian Reza
Abstract excerpt
PURPOSE: Synaptic communication deficits are central to many neurodevelopmental disorders. However, for rare monogenic conditions, these disorders remain poorly defined, with limited understanding of their molecular etiology. A homozygous frameshift variant in the synaptic cell adhesion molecule ELFN1 was reported in a family with 3 affected siblings with epileptic encephalopathy, alongside a missense variant of...
Read the complete abstract on PubMedTopics
- Humans
- Neurodevelopmental Disorders