Page 116 - AN-4-1

Advanced Neurology

CASE REPORT
A rare genetic association of one silent (ADGRV1)

and other unquiet (MED13L) mutation: A
case report

Prasannakumar Surabhi , Lakshmi J Nair , Jayakumari Nandana ,
Karamala Yalapalli Manisha , Ramshekhar N. Menon , and
Ashalatha Radhakrishnan*
Department of Neurology, R. Madhavan Nayar Center for Comprehensive Epilepsy Care, Sree
Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India

Abstract

Two genes likely to cause epilepsy, one silent and the other manifesting in a patient
with drug-resistant epilepsy, can be quite unusual. Herein, we described the case
of a 2-year-old girl who presented with predominant language development
delay, facial dysmorphism, and refractory epilepsy with normal neuroimaging and
metabolic profiles, which prompted us to consider genetic etiology. Her genetic test
revealed two novel likely pathogenic mutations, in Mediator complex subunit 13-like
(MED13L) and adhesion G protein-coupled receptor V1 (ADGRV1). Sanger sequencing
*Corresponding author: of her parents revealed an ADGRV1 variant in her unaffected mother. The child
Ashalatha Radhakrishnan had a phenotypic match with the MED13L genotype. However, only a few cases of
(drashalatha@sctimst.ac.in) MED13L have reported refractory epilepsy and the corresponding mutation was
Citation: Surabhi P, Nair LJ, missense. To the best of our knowledge, this is the first case of frameshift mutation
Nandana J, Manisha KY, Menon in MED13L presenting with refractory epilepsy. Although the child harbored two
RN, Radhakrishnan A. A rare
genetic association of one silent likely pathogenic mutations, the one inherited from her mother in ADGRV1 did not
(ADGRV1) and other unquiet manifest, whereas the frameshift mutation in MED13L had expressed as refractory
(MED13L) mutation: A case report. epilepsy, which has not been described hitherto.
Adv Neurol. 2025;4(1):110-114.
doi: 10.36922/an.3602
Received: May 8, 2024 Keywords: Adhesion G protein-coupled receptor V1; Mediator complex subunit 13-like;
Pediatric epilepsy; Case report
Revised: July 26, 2024
Accepted: September 20, 2024
Published Online: November 5,
2024 1. Introduction
Copyright: © 2024 Author(s). Epilepsy is one of the most common neurological disorders affecting children, with a
This is an Open-Access article global prevalence of approximately 0.5 – 1.0%. Approximately 10 – 20% of children can
distributed under the terms of the
Creative Commons Attribution have refractory epilepsy, which can seriously impact their quality of life, development,
License, permitting distribution, and educational attainment. Refractory epilepsy in children has diverse etiologies. The
and reproduction in any medium, presence of features such as facial dysmorphism, intellectual disability, and growth
provided the original work is
properly cited. retardation can suggest an underlying genetic etiology for the same. It can indeed involve
multiple genes, which contribute to increased susceptibility.
Publisher’s Note: AccScience
Publishing remains neutral with Mediator complex subunit 13-like (MED13L) is a component of the Mediator
regard to jurisdictional claims in
published maps and institutional complex, a multiprotein complex required for gene transcription by RNA polymerase
affiliations. II. Multiple subunits of the complex show specificity in relaying information from

Volume 4 Issue 1 (2025) 110 doi: 10.36922/an.3602