Herein we focus on connections between genetics and some central disorders of hypersomnolence - narcolepsy types 1 and 2 (NT1, NT2), idiopathic hypersomnia (IH), and Kleine-Levin syndrome (KLS) - for a better understanding of their etiopathogenetic mechanisms and a better diagnostic and therapeutic definition. Gene pleiotropism influences neurological and sleep disorders such as hypersomnia; therefore, genetics allows us to uncover common pathways to different pathologies, with potential new therapeutic perspectives. An important body of evidence has accumulated on NT1 and IH, allowing a better understanding of etiopathogenesis, disease biomarkers, and possible new therapeutic approaches. Further studies are needed in the field of epigenetics, which has a potential role in the modulation of biological specific hypersomnia pathways.

Genetics and epigenetics of rare hypersomnia

Salsone M;Novellino F;
2023

Abstract

Herein we focus on connections between genetics and some central disorders of hypersomnolence - narcolepsy types 1 and 2 (NT1, NT2), idiopathic hypersomnia (IH), and Kleine-Levin syndrome (KLS) - for a better understanding of their etiopathogenetic mechanisms and a better diagnostic and therapeutic definition. Gene pleiotropism influences neurological and sleep disorders such as hypersomnia; therefore, genetics allows us to uncover common pathways to different pathologies, with potential new therapeutic perspectives. An important body of evidence has accumulated on NT1 and IH, allowing a better understanding of etiopathogenesis, disease biomarkers, and possible new therapeutic approaches. Further studies are needed in the field of epigenetics, which has a potential role in the modulation of biological specific hypersomnia pathways.
2023
Istituto di Bioimmagini e Fisiologia Molecolare - IBFM
Inglese
39
5
415
429
15
http://www.scopus.com/inward/record.url?eid=2-s2.0-85148885958&partnerID=q2rCbXpz
Kleine-Levin syndrome; central disorders of hypersomnolence; epigenetics; genetics; idiopathic hypersomnia; narcolepsy type 1; narcolepsy type 2; rare hypersomnia.
9
info:eu-repo/semantics/article
262
Mogavero, Mp; Delrosso, Lm; Bruni, O; Salemi, M; Salsone, M; Novellino, F; Zucconi, M; Ferini Strambi, L; Ferri, R
01 Contributo su Rivista::01.09 Rassegna bibliografica, critica, sistematica della letteratura scientifica in rivista (Literature review)
none
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/463320
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