Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci

Aditya Ambati; Ryan Hillary; Smaranda Leu-Semenescu; Hanna Ollila; Ling Lin; Emmanuel During; Neal Farber; Thomas Rico; Juliette Faraco; Eileen Leary; Andrea Goldstein-Piekarski; Yu-Shu Huang; F. Han; Yakov Sivan; Michel Lecendreux; Pauline Dodet; Makoto Honda; Natan Gadoth; Sona Nevsimalova; Fabio Pizza; Takashi Kanbayashi; Rosa Peraita-Adrados; Guy Leschziner; Rosa Hasan; Francesca Canellas; Kazuhiko Kume; Makrina Daniilidou; Patrice Bourgin; David Rye; José Vicario; Birgit Hogl; Seung Chul Hong; Guiseppe Plazzi; Geert Mayer; Anne Marie Landtblom; Yves Dauvilliers; Isabelle Arnulf; Emmanuel Jean-Marie Mignot

doi:10.1073/pnas.2005753118

Article de revue

Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci

Aditya Ambati, Ryan Hillary, Smaranda Leu-Semenescu, Hanna Ollila, Ling Lin, Emmanuel During, Neal Farber, Thomas Rico, Juliette Faraco, Eileen Leary, …

Proceedings of the National Academy of Sciences of the United States of America, Vol.118(12)

18/03/2021

DOI: https://doi.org/10.1073/pnas.2005753118

PMCID: PMC7999876

PMID: 33737391

Résumé

Hypersomnia

Birth difficulties

Bipolar disorder

Kleine-Levin syndrome

GWAS

Bipolar Disorder

Cytokines

Male

Obstetric Labor Complications

Odds Ratio

Polymorphism, Genetic

Pregnancy

Risk Assessment

Risk Factors

Disease Susceptibility

Disorders of Excessive Somnolence

Female

Genetic Association Studies

Genetic Predisposition to Disease

Genetic Variation

Humans

Kleine-Levin Syndrome

Significance Genetic markers in TRANK1 gene and its vicinity have been weakly associated with bipolar disorder and schizophrenia (10% increased risk). We found that the same polymorphisms are associated with Kleine-Levin syndrome (50% increased risk), a rare sleep disorder characterized by recurrent episodes of severe hypersomnia and cognitive abnormalities. Response to lithium treatment is suggestive of a pathophysiological overlap between KLS and bipolar disorder. The study also shows that variants in the TRANK1 gene region may predispose to KLS when patients have had a difficult birth, suggesting that TRANK1 gene region modulates newborns’ response to brain injury, with consequences for mental and neurological health in adulthood. Another possibility may be that the polymorphism impacts birth and KLS.

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Titre: Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci
Créateurs - sans rôle: Aditya Ambati - Stanford University
Ryan Hillary - Stanford University
Smaranda Leu-Semenescu - Pitié-Salpêtrière Hospital
Hanna Ollila - Stanford University
Ling Lin - Stanford University
Emmanuel During - Stanford University
Neal Farber - KLS Foundation
Thomas Rico - Stanford University
Juliette Faraco - Stanford University
Eileen Leary - Stanford University
Andrea Goldstein-Piekarski - Stanford University
Yu-Shu Huang - Chang Gung Memorial Hospital [Taipei]
F. Han - Peking University
Yakov Sivan - Sheba Medical Center
Michel Lecendreux - Hôpital Robert-Debré
Pauline Dodet - Sorbonne Université
Makoto Honda - Tokyo Metropolitan Institute of Medical Science
Natan Gadoth - Mayanei Hayeshua Medical Center
Sona Nevsimalova - Charles University
Fabio Pizza - Institute of Neurological Sciences
Takashi Kanbayashi - Tsukuba International University
Rosa Peraita-Adrados - Hospital General Universitario Gregorio Marañón
Guy Leschziner - Guy's Hospital
Rosa Hasan - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
Francesca Canellas - Health Research Institute of the Balearic Islands
Kazuhiko Kume - Nagoya City University
Makrina Daniilidou - Uppsala University Hospital
Patrice Bourgin - Hôpitaux Universitaires de Strasbourg
David Rye - Emory University
José Vicario
Birgit Hogl - Innsbruck Medical University
Seung Chul Hong - The Catholic University of Korea St. Vincent's Hospital
Guiseppe Plazzi - University of Bologna
Geert Mayer - Philipps University of Marburg
Anne Marie Landtblom - Uppsala University
Yves Dauvilliers - Centre Hospitalier Universitaire de Montpellier
Isabelle Arnulf - Assistance Publique – Hôpitaux de Paris
Emmanuel Jean-Marie Mignot - Stanford University
Détails de publication: Proceedings of the National Academy of Sciences of the United States of America, Vol.118(12)
Identifiants: 99150507509311
Unité académique: Institut des Neurosciences de Montpellier - INM
Langue: English
Type de ressource: Journal article
Champs locaux: hal-03670258