Objective: Early Infantile Epileptic Encephalopathies (EIEEs) are the most severe end of the spectrum of early-onset epilepsies which usually lead to progressive psychomotor impairment. They start with different types of severe seizures in the early infantile period which are drug-resistant and lead to progressive brain dysfunction such as intellectual disability, severe

Background: ECEL1 has been represented as a causal gene of an autosomal recessive form distal arthrogryposis (DA) which affects the distal joints. The present study focused on bioinformatic analysis of a novel mutation in ECEL1, c.535A>G (p. Lys179Glu), which reported in a family with 2 affected boy and fetus through prenatal diagnosis. Material and Methods: Whole exome sequencing data analyzed followed by Molecular Dynamics (MD) simulation of native ECEL1 protein and mutant structures using GROMACS software. Results: One variant c.535A>G, p. Lys179Glu (Homozygous) on gene ECEL1 has been detected in proband which was segregated in all family members. we demonstrated remarkable constructional differences by MD simulation between wild type and novel mutant of ECEL1 gene.the reason of the lack of the Zn ion binding in mutation in the ECEL1 protein have been identified by average atomic distance and SMD analysis among the wild type and mutant Conclusion: Overall, our findings in this study we present aknowledge of the effect of the mutation on the ECEL1 protein leading towards the fatal neurodegenerative disorder in humans. This work may hopefully be supplementary to classical molecular dynamics to dissolve the mutational effects of cofactor dependent protein, since the second one is time consuming and laborious.