Developmental and epileptic encephalopathy type 96 caused by de novo variation in NSF gene:one case report and literature review
XU Jia-xuan
TANG Han-lin
KONG Qing-xia
LI Qiu-bo
JIANG Xiu-fang
Abstract：Objective To explore the clinical and molecular genetic characteristics of developmental and epileptic encephalopathy type 96(DEE96)caused by de novo variation in NSF gene.Methods and Results A male child,96 days old,had the clinical manifestations of loss of consciousness,cyanosis of the mouth and lips,binocular gaze,limb rigidity and shaking.Head MRI showed that the bilateral frontal temporal extra cranial spaces and the anterior longitudinal fissure pool were widened.EEG showed that the peak dysrhythmia,spasm epileptic seizures,and focal seizures secondary to comprehensive tonic seizures.Gene testing showed that there was a deletion mutation of the NSF gene c.1694_1696del(p.Ile565del),which was a de novo mutation,and the diagnosis of developmental and epileptic encephalopathy type 96 was confirmed.Conclusions The clinical phenotype of developmental and epileptic encephalopathy caused by NSF gene variation is similar,and the onset age varies.This study summarizes the clinical manifestations of pediatric patients,expands the NSF gene variation spectrum,and provides key evidence for clinical doctors to diagnose the disease.
Keywords：EpilepsyBrain diseasesSpasmsinfantileGenesMutationAnticonvulsantsEpinephrine
Publication Date：2025-11-25
Online Publishing Date：2025-12-16(First online date of this platform, not the publication date of the document)
Pages：7( 1020-1026 )