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

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

Ambati, Aditya (författare): Stanford Univ, Ctr Sleep Sci & Med, Sch Med, Palo Alto, CA 94304 USA.

Hillary, Ryan (författare): Stanford Univ, Ctr Sleep Sci & Med, Sch Med, Palo Alto, CA 94304 USA.

Leu-Semenescu, Smaranda (författare): Sorbonne Univ, Pitie Salpetriere Hosp, AP HP,Sleep Disorders,Inst Hosp Univ, Natl Reference Ctr Narcolepsy Idiopath Hypersomni, Paris, France.

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Ollila, Hanna M. (författare): Stanford Univ, Ctr Sleep Sci & Med, Sch Med, Palo Alto, CA 94304 USA.,Tokyo Metropolitan Inst Med Sci, Japan

Lin, Ling (författare): Stanford Univ, Ctr Sleep Sci & Med, Sch Med, Palo Alto, CA 94304 USA.,Blood Ctr Community Madrid, Spain

During, Emmanuel H. (författare): Stanford Univ, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.;Stanford Univ, Dept Neurol & Neurol Sci, Stanford, CA 94305 USA.

Farber, Neal (författare): Kleine Levin Syndrome Fdn, Boston, MA 02468 USA.

Rico, Thomas J. (författare): Stanford Univ, Ctr Sleep Sci & Med, Sch Med, Palo Alto, CA 94304 USA.

Faraco, Juliette (författare): Stanford Univ, Ctr Sleep Sci & Med, Sch Med, Palo Alto, CA 94304 USA.

Leary, Eileen (författare): Stanford Univ, Ctr Sleep Sci & Med, Sch Med, Palo Alto, CA 94304 USA.

Goldstein-Piekarski, Andrea N. (författare): Stanford Univ, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.;Vet Affairs Palo Alto Hlth Care Syst, Sierra Pacific Mental Illness Res Educ & Clin Ctr, Palo Alto, CA 94304 USA.

Huang, Yu-Shu (författare): Chang Gung Mem Hosp & Univ, Dept Child Psychiat, Taoyuan 33305, Taiwan.;Chang Gung Mem Hosp & Univ, Sleep Ctr, Taoyuan 33305, Taiwan.

Han, Fang (författare): Peking Univ Peoples Hosp, Dept Pulm Med, Beijing 100044, Peoples R China.

Sivan, Yakov (författare): Tel Aviv Univ, Safra Childrens Hosp, Sackler Fac Med, Sheba Med Ctr, IL-52621 Tel Aviv, Israel.

Lecendreux, Michel (författare): Hosp Robert Debre, Pediat Sleep Ctr, France Ctr Narcolepsy & Idiopath Hypersomnia, F-75019 Paris, France.;Hosp Robert Debre, Natl Reference Ctr, France Ctr Narcolepsy & Idiopath Hypersomnia, F-75019 Paris, France.

Dodet, Pauline (författare): Sorbonne Univ, Pitie Salpetriere Hosp, AP HP,Sleep Disorders,Inst Hosp Univ, Natl Reference Ctr Narcolepsy Idiopath Hypersomni, Paris, France.

Honda, Makoto (författare): Tokyo Metropolitan Inst Med Sci, Dept Psychiat & Behav Sci, Sleep Disorders Project, Tokyo 1568506, Japan.

Gadoth, Natan (författare): Maynei Hayeshua Med Ctr, Dept Neurol, IL-5154475 Bnei Braq, Israel.;Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel.

Nevsimalova, Sona (författare): Charles Univ Prague, Gen Teaching Hosp, Fac Med 1, Dept Neurol, Prague 11636, Czech Republic.

Pizza, Fabio (författare): Univ Bologna, Dept Biomed & Neuromotor Sci, I-40139 Bologna, Italy.;IRCCS, Ist Ricovero & Cura Carattere Sci, Inst Neurol Sci, I-40139 Bologna, Italy.

Kanbayashi, Takashi (författare): Univ Tsukuba, Int Inst Integrat Sleep Med, Tsukuba, Ibaraki 3050005, Japan.

Peraita-Adrados, Rosa (författare): Univ Complutense Madrid, Hosp Univ, Madrid 28040, Spain.;Univ Complutense Madrid, Inst Invest Gregorio Maranon, Madrid 28040, Spain.

Leschziner, Guy D. (författare): Guys Hosp, Sleep Disorders Ctr, London SE1 9RT, England.;Kings Coll London, Inst Psychiat Psychol & Neurosci, London SE5 8AF, England.

Hasan, Rosa (författare): Univ Sao Paulo, Hosp Clin, Fac Med, Inst Psychiat, BR-05403010 Sao Paulo, Brazil.

Canellas, Francesca (författare): Hosp Univ Son Espases, Fundacio Inst Invest Sanitaria Illes Balears, Palma De Mallorca 07120, Spain.

Kume, Kazuhiko (författare): Nagoya City Univ, Dept Neuropharmacol, Nagoya, Aichi 4678601, Japan.

Daniilidou, Makrina (författare): Linköpings universitet,Uppsala universitet,Landtblom: Neurovetenskap,Uppsala Univ, Dept Neurosci, S-75236 Uppsala, Sweden.;Linköping Univ, Dept Biomed & Clin Sci, S-58183 Linköping, Sweden.,Institutionen för biomedicinska och kliniska vetenskaper,Medicinska fakulteten

Bourgin, Patrice (författare): Hop Univ Strasbourg, Sleep Disorders Ctr, F-67091 Strasbourg, France.

Rye, David (författare): Emory Univ, Dept Neurol, Atlanta, GA 30322 USA.

Vicario, Jose L. (författare): Blood Ctr Community Madrid, Histocompatibil Dept, Madrid 28032, Spain.

Hogl, Birgit (författare): Innsbruck Med Univ, Dept Neurol, A-6020 Innsbruck, Austria.

Hong, Seung Chul (författare): Catholic Univ Korea, Coll Med, Dept Neuropsychiat, St Vincents Hosp, Seoul 16247, South Korea.

Plazzi, Guiseppe (författare): Univ Bologna, Dept Biomed & Neuromotor Sci, I-40139 Bologna, Italy.;IRCCS, Ist Ricovero & Cura Carattere Sci, Inst Neurol Sci, I-40139 Bologna, Italy.

Mayer, Geert (författare): Philipps Univ Marburg, Hephata Klin, D-35037 Marburg, Germany.

Landtblom, Anne-Marie (författare): Linköpings universitet,Uppsala universitet,Landtblom: Neurovetenskap,Uppsala Univ, Dept Neurosci, S-75236 Uppsala, Sweden.;Linköping Univ, Dept Biomed & Clin Sci, S-58183 Linköping, Sweden.,Medicinska fakulteten,Avdelningen för neurobiologi,Region Östergötland, Neurologiska kliniken i Linköping

Dauvilliers, Yves (författare): Univ Montpellier, CHU Montpellier, Natl Reference Ctr Orphan Dis, Narcolepsy Rare Hypersomnias Sleep Unit,Dept Neur, F-34000 Montpellier, France.;Univ Montpellier, Inst Neurosci Montpellier, INSERM, F-34000 Montpellier, France.

Arnulf, Isabelle (författare): Sorbonne Univ, Pitie Salpetriere Hosp, AP HP,Sleep Disorders,Inst Hosp Univ, Natl Reference Ctr Narcolepsy Idiopath Hypersomni, Paris, France.

Mignot, Emmanuel Jean-Marie (författare): Stanford Univ, Ctr Sleep Sci & Med, Sch Med, Palo Alto, CA 94304 USA.

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Stanford Univ, Ctr Sleep Sci & Med, Sch Med, Palo Alto, CA 94304 USA Sorbonne Univ, Pitie Salpetriere Hosp, AP HP,Sleep Disorders,Inst Hosp Univ, Natl Reference Ctr Narcolepsy Idiopath Hypersomni, Paris, France. (creator_code:org_t)

2021-03-18
2021
Engelska.
Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences (PNAS). - 0027-8424 .- 1091-6490. ; 118:12

Relaterad länk:: https://www.pnas.org...; visa fler...; https://urn.kb.se/re...; https://doi.org/10.1...; https://urn.kb.se/re...; visa färre...

Tidskriftsartikel (refereegranskat)

Abstract Ämnesord

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Kleine-Levin syndrome (KLS) is a rare disorder characterized by severe episodic hypersomnia, with cognitive impairment accompanied by apathy or disinhibition. Pathophysiology is unknown, although imaging studies indicate decreased activity in hypothalamic/thalamic areas during episodes. Familial occurrence is increased, and risk is associated with reports of a difficult birth. We conducted a worldwide case-control genome-wide association study in 673 KLS cases collected over 14 y, and ethnically matched 15,341 control individuals. We found a strong genome-wide significant association (rs71947865, Odds Ratio [OR] = 1.48, P = 8.6 x 10(-9)) within the 3'region of TRANK1 gene locus, previously associated with bipolar disorder and schizophrenia. Strikingly, KLS cases with rs71947865 variant had significantly increased reports of a difficult birth. As perinatal outcomes have dramatically improved over the last 40 y, we further stratified our sample by birth years and found that recent cases had a significantly reduced rs71947865 association. While the rs71947865 association did not replicate in the entire follow-up sample of 171 KLS cases, rs71947865 was significantly associated with KLS in the subset follow-up sample of 59 KLS cases who reported birth difficulties (OR = 1.54, P = 0.01). Genetic liability of KLS as explained by polygenic risk scores was increased (pseudo R-2 = 0.15; P < 2.0 x 10(-22) at P = 0.5 threshold) in the follow-up sample. Pathway analysis of genetic associations identified enrichment of circadian regulation pathway genes in KLS cases. Our results suggest links between KLS, circadian regulation, and bipolar disorder, and indicate that the TRANK1 polymorphisms in conjunction with reported birth difficulties may predispose to KLS.

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

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