MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.

Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE

Publication: London : Elsevier
Original Publication: London : Baillière Tindall, c1992-

Autism Spectrum Disorder*/complications ; Epilepsy*/complications ; Epilepsy*/genetics ; Intellectual Disability*/complications ; Microcephaly*/complications ; Spasms, Infantile*/complications ; Spasms, Infantile*/genetics; Humans ; Male ; Mediator Complex/genetics ; Mutation/genetics ; Phenotype ; Seizures/complications

Purpose: Mutations in the MED13 gene are reported in the literature in association with clinically variable, neurodevelopmental disorders, which are characterized by mild-to-severe intellectual disability, autism spectrum disorder, attention deficit/hyperactivity disorder, epilepsy, ocular or skeletal abnormalities, congenital cardiac defects, and facial dysmorphisms. Here, we report a patient with an epileptic phenotype carrying a novel missense mutation characterized by developmental and epileptic encephalopathy with infantile spasms.
Methods: Through trio-based WES, we identified a novel de novo heterozygous missense variant c.2501A>G in the MED13 gene. We reviewed all medical charts of the present patient and reviewed all previously reported cases with pathogenic variants of MED13.
Results: This study involves a 24-month-old boy with epilepsy onset at the age of 3 months with drug-resistant focal seizures followed by infantile spasms at the age of 10 months. He had a severe, developmental delay along with microcephaly and dysmorphic features. From a literature review, it emerged that epilepsy is described in only one out of nineteen of previously reported patients with a phenotype of generalized, drug-resistant epilepsy with myoclonic-atonic seizures. Microcephaly, developmental delay, hypotonia, corpus callosum abnormalities, deafness, and retinal atrophy were common features in the previously described cases.
Conclusion: This case expands the genetic landscape of infantile spasms as well as the phenotype of MED13-related disorders adding the electroclinical features of early-onset developmental and epileptic encephalopathy with infantile spasms to the previously described, generalized epilepsy with myoclonic-atonic seizures.
Competing Interests: Declaration of Competing Interest None of the authors have any conflicts of interest to declare.
(Copyright © 2022. Published by Elsevier Ltd.)

Keywords: Developmental and epileptic encephalopathy; Genetic epilepsy; Infantile spasms; MED13 gene; Neurodevelopmental disorder; West syndrome

0 (MED13 protein, human)
0 (Mediator Complex)

Date Created: 20220910 Date Completed: 20221010 Latest Revision: 20221011

20240104

10.1016/j.seizure.2022.09.002

36087421