Article
Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature.
American journal of medical genetics. Part A - 1 Mar 2021
Stern Tomer, Orenstein Naama, Fellner Avi, Lev-El Halabi Noa, Shuldiner Alan R, Gonzaga-Jauregui Claudia, Lidzbarsky Gabriel, Basel-Salmon Lina, Goldberg-Stern Hadassa
Abstract excerpt
A male patient with a de novo mutation in the YWHAG gene and mild phenotype is presented. He had normal delivery and normal development, with normal speech and social milestones. At the age of 9 months, myoclonic seizures started, with generalized epileptiform discharges. The child responded well to levetiracetam monotherapy with complete seizure resolution. Levetiracetam was stopped and he remained seizure-free...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
