Page 81 - AN-3-3

Advanced Neurology mTOR inhibition in epilepsy

14. Ostendorf AP, Wong M. mTOR inhibition in epilepsy: identifies the first STRADA point mutation in a patient with
Rationale and clinical perspectives. CNS Drugs. polyhydramnios, megalencephaly, and symptomatic epilepsy
2015;29(2):91-99. syndrome (PMSE). Am J Med Genet A. 2016;170(8):2181-2185.
doi: 10.1007/s40263-014-0223-x doi: 10.1002/ajmg.a.37727
15. Hay N, Sonenberg N. Upstream and downstream of mTOR. 26. Dang LT, Glanowska KM, Iffland Ii PH, et al. Multimodal
Genes Dev. 2004;18(16):1926-1945. analysis of STRADA function in brain development. Front
Cell Neurosci. 2020;14:122.
doi: 10.1101/gad.1212704
doi: 10.3389/fncel.2020.00122
16. Moloney PB, Cavalleri GL, Delanty N. Epilepsy in the
mTORopathies: Opportunities for precision medicine. 27. Canaud G, Hammill AM, Adams D, Vikkula M, Keppler-
Brain Commun. 2021;3(4):fcab222. Noreuil KM. A review of mechanisms of disease across
PIK3CA-related disorders with vascular manifestations.
doi: 10.1093/braincomms/fcab222
Orphanet J Rare Dis. 2021;16(1):306.
17. Sabatini DM. Twenty-five years of mTOR: Uncovering the
link from nutrients to growth. Proc Natl Acad Sci U S A. doi: 10.1186/s13023-021-01929-8
2017;114(45):11818-11825. 28. Rivière JB, Mirzaa GM, O’Roak BJ, et al. De novo germline
and postzygotic mutations in AKT3, PIK3R2 and PIK3CA
doi: 10.1073/pnas.1716173114
cause a spectrum of related megalencephaly syndromes. Nat
18. Rouillard AD, Gundersen GW, Fernandez NF, et al. The Genet. 2012;44(8):934-940.
harmonizome: A collection of processed datasets gathered doi: 10.1038/ng.2331
to serve and mine knowledge about genes and proteins-
MTOR signaling pathway gene set. Database (Oxford). 29. Lindhurst MJ, Sapp JC, Teer JK, et al. A mosaic activating
2016;2016:baw100. mutation in AKT1 associated with the Proteus syndrome.
N Engl J Med. 2011;365(7):611-619.
doi: 10.1093/database/baw100
doi: 10.1056/NEJMoa1104017
19. Iffland PH 2 , Carson V, Bordey A, Crino PB.
nd
GATORopathies: The role of amino acid regulatory gene 30. Hendriks YM, Verhallen JT, Van der Smagt JJ, et al.
mutations in epilepsy and cortical malformations. Epilepsia. Bannayan-Riley-Ruvalcaba syndrome: Further delineation
2019;60(11):2163-2173. of the phenotype and management of PTEN mutation-
positive cases. Fam Cancer. 2003;2(2):79-85.
doi: 10.1111/epi.16370
doi: 10.1023/a:1025713815924
20. Wong M. A critical review of mTOR inhibitors and epilepsy:
From basic science to clinical trials. Expert Rev Neurother. 31. Dragoo DD, Taher A, Wong VK, et al. PTEN hamartoma
2013;13(6):657-669. tumor syndrome/cowden syndrome: Genomics,
oncogenesis, and imaging review for associated lesions and
doi: 10.1586/ern.13.48
malignancy. Cancers (Basel). 2021;13(13):3120.
21. Lim JS, Kim WI, Kang HC, et al. Brain somatic mutations doi: 10.3390/cancers13133120
in MTOR cause focal cortical dysplasia type II leading to
intractable epilepsy. Nat Med. 2015;21(4):395-400. 32. Alfaiz AA, Micale L, Mandriani B, et al. TBC1D7 mutations
are associated with intellectual disability, macrocrania,
doi: 10.1038/nm.3824
patellar dislocation, and celiac disease. Hum Mutat.
22. Lee WS, Stephenson SE, Pope K, et al. Genetic 2014;35(4):447-451.
characterization identifies bottom-of-sulcus dysplasia as an
mTORopathy. Neurology. 2020;95(18):e2542-e2551. doi: 10.1002/humu.22529
33. Baldassari S, Picard F, Verbeek NE, et al. The landscape
doi: 10.1212/WNL.0000000000010670
of epilepsy-related GATOR1 variants. Genet Med.
23. Baldassari S, Ribierre T, Marsan E, et al. Dissecting the 2019;21(2):398-408.
genetic basis of focal cortical dysplasia: A large cohort study. doi: 10.1038/s41436-018-0060-2
Acta Neuropathol. 2019;138(6):885-900.
34. Zhao W, Xie C, Zhang X, Liu J, Liu J, Xia Z. Advances in
doi: 10.1007/s00401-019-02061-5
the mTOR signaling pathway and its inhibitor rapamycin in
24. Gordo G, Tenorio J, Arias P, et al. mTOR mutations in epilepsy. Brain Behav. 2023;13(6):e2995.
Smith-Kingsmore syndrome: Four additional patients and a doi: 10.1002/brb3.2995
review. Clin Genet. 2018;93(4):762-775.
35. Abs E, Goorden SM, Schreiber J, et al. TORC1-dependent
doi: 10.1111/cge.13135
epilepsy caused by acute biallelic Tsc1 deletion in adult mice.
25. Bi W, Glass IA, Muzny DM, et al. Whole exome sequencing Ann Neurol. 2013;74(4):569-579.

Volume 3 Issue 3 (2024) 17 doi: 10.36922/an.3568