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Advanced Neurology ADGRV1 and MED13L mutation

or signaling context through transcription factors, signaling doi: 10.1242/dev.098392
pathways and so on. So far, no such crosstalk between the 2. Tørring PM, Larsen MJ, Brasch-Andersen C, et al. Is
aforementioned genes has been reported in literature. MED13L-related intellectual disability a recognizable
syndrome? Eur J Med Genet. 2019;62(2):129-136.
4. Conclusion
doi: 10.1016/j.ejmg.2018.06.014
Our patient harbored two mutations, and on verification of 3. Smol T, Petit F, Piton A, et al. MED13L-related intellectual
the literature, this rare genetic combination was found to be disability: Involvement of missense variants and delineation
undocumented. Even though the child harbored a mutation of the phenotype. Neurogenetics. 2018;19(2):93-103.
in ADGRV1, which was inherited from her mother, both of
them had not manifested the corresponding phenotype, doi: 10.1007/s10048-018-0541-0
whereas the frameshift mutation in MED13L presented 4. Zhou P, Meng H, Liang X, et al. ADGRV1 variants in febrile
itself in a manner not hitherto described. seizures/epilepsy with antecedent febrile seizures and their
associations with audio-visual abnormalities. Front Mol
Acknowledgments Neurosci. 2022;15:864074.

None. doi: 10.3389/fnmol.2022.864074
5. Myers KA, Nasioulas S, Boys A, et al. ADGRV1 is implicated
Funding in myoclonic epilepsy. Epilepsia. 2018;59(2):381-388.

None. doi: 10.1111/epi.13980
Conflict of interest 6. Liu Z, Ye X, Zhang J, Wu B, Dong S, Gao P. Biallelic ADGRV1
variants are associated with Rolandic epilepsy. Neurol Sci.
The authors declare that they have no competing interests. 2022;43(2):1365-1374.
doi: 10.1007/s10072-021-05403-y
Author contributions
7. Dahawi M, Elmagzoub MS, Ahmed A, et al. Involvement
Conceptualization: Ashalatha Radhakrishnan of ADGRV1 gene in familial forms of genetic generalized
Investigation: Prasannakumar Surabhi , Lakshmi J Nair epilepsy. Front Neurol. 2021;12:738272.
Methodology: Ramshekhar N Menon, Jayakumari doi: 10.3389/fneur.2021.738272
Nandana, Karamala Yalapalli Manisha
Writing–original draft: Prasannakumar Surabhi 8. Musante L, Bartsch O, Ropers HH, Kalscheuer VM. cDNA
cloning and characterization of the human THRAP2 gene
Writing–review & editing: All authors
which maps to chromosome 12q24, and its mouse ortholog
Ethics approval and consent to participate Thrap2. Gene. 2004;332:119-127.
doi: 10.1016/j.gene.2004.02.044
The parents of the patient gave written consent to
participation in this study. 9. Muncke N, Jung C, Rüdiger H, et al. Missense mutations and
gene interruption in PROSIT240, a Novel TRAP240-like
Consent for publication gene, in patients with congenital heart defect (transposition
of the great arteries). Circulation. 2003;108(23):2843-2850.
The author has obtained the written consent from the doi: 10.1161 / 01.CIR.0000103684.77636.CD
parents to publish the case details. The identity of the child
is not revealed in the manuscript. 10. Raj A, Rifkin SA, Andersen E, Van Oudenaarden A.
Variability in gene expression underlies incomplete
Availability of data penetrance. Nature. 2010;463(7283):913-918.

Not applicable. doi: 10.1038/nature08781
11. Canitano A, Papa M, Boscia F, et al. Brain distribution of
References the Na+/Ca2+ exchanger-encoding genes NCX1, NCX2,

1. Yin JW, Wang G. The Mediator complex: A master and NCX3 and their related proteins in the central nervous
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