Evidence-based management strategies for CLTC-ID — covering epilepsy, multidisciplinary surveillance, neurodevelopmental therapies, sleep, and the MAO-B inhibitor (selegiline & rasagiline) approach.
References
Nabais Sá MJ, de Man SA, et al. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy. Genet Med. 2020;22(4):797–802.
Devinsky O, Vezzani A, O'Brien TJ, et al. Epilepsy. Nat Rev Dis Primers. 2018;4:18024.
Cross JH, Caraballo RH, Nabbout R, et al. Dravet syndrome: Treatment options and management of prolonged seizures. Epilepsia. 2019;60(Suppl 3):S39–S48.
DeMari J, Mroske C, et al. CLTC as a clinically novel gene associated with multiple malformations and developmental delay. Am J Med Genet A. 2016;170(4):958–966.
Odom SL, Collet-Klingenberg L, Rogers SJ, Hatton DD. Evidence-based practices in interventions for children and youth with autism spectrum disorders. Prev School Fail. 2010;54(4):275–282.
Hirata I, Nakamura T, et al. Sleep disturbances in children with neurodevelopmental disorders: A systematic review and meta-analysis. Sleep Med Rev. 2021;56:101408.
Sveistrup & Myers, et al. Mosaic CLTC pathogenic variant causing focal epilepsy with normal intelligence. Epileptic Disord. 2024 Dec;26(6):875.
DiCello JJ, Rajasekhar P, et al. Clathrin and GRK2/3 inhibitors block δ-opioid receptor internalization in myenteric neurons. Am J Physiol Gastrointest Liver Physiol. 2019;317(2):G79–G89.
Soohoo AL, Puthenveedu MA. Divergent modes for cargo-mediated control of clathrin-coated pit dynamics. Mol Biol Cell. 2013;24(11):1725–34.
Youdim MB, Edmondson D, Tipton KF. The therapeutic potential of monoamine oxidase inhibitors. Nat Rev Neurosci. 2006;7(4):295–309.
Riederer P, Laux G. MAO-inhibitors in Parkinson's disease. Exp Neurobiol. 2011;20(1):1–17.
Nardecchia F, Bove R, Pollini L, et al. Improvement of movement disorder and neurodevelopment under selegiline in a CLTC-deficient patient. Mov Disord Clin Pract. 2023;10(9):1430–1432.