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Orvosi Hetilap
Authors: Ágnes Till, Renáta Szalai, Márta Hegyi, Erzsébet Kövesdi, Gergely Büki, Kinga Hadzsiev and Béla Melegh

Absztrakt:

A molekuláris genetikai technológiák fejlődése következtében egyre több, korábban idiopátiásnak tartott betegség hátterében ismerjük meg a genetikai eltérést. A generalizált epilepsziában szenvedő, a betegség lefolyása során epilepsziaszindrómát váltó, jó intellektusú, kiterjedt hipopigmentált folttal rendelkező fiúgyermek célzott genetikai vizsgálata neurocutan szindróma irányába nem hozott eredményt. Teljesexom-szekvenálás során egy kálium-klorid-kotranszporter génjének heterozigóta misszensz mutációja igazolódott, ami a fenotípussal összevetve, az irodalomban az idiopátiás generalizált epilepszia 14-es típusaként ismert epilepsziaszindróma diagnózisát támasztja alá. Orv Hetil. 2019; 160(21): 835–838.

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Orvosi Hetilap
Authors: Kinga Hadzsiev, Mónika Szőts, Anett Fekete, László Balikó, Kim Boycott, Ferenc Nagy and Béla Melegh

suicidal cell death in chorea-acanthocytosis. FASEB J. 2012; 26: 1526–1534. 14 Sawyer SL, Hartley T, Dyment DA, et al. Utility of whole-exome sequencing for those near the end of

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Orvosi Hetilap
Authors: Péter Balicza, Zoltán Grosz, Renáta Bencsik, Anett Illés, Anikó Gál, András Gézsi and Mária Judit Molnár

kifejlődése és alkalmazásai.) Orv Hetil. 2011; 152: 55–62. [Hungarian] 2 Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N

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Abstract

Background

Following the first association between the dopamine D2 receptor gene polymorphism and severe alcoholism, there has been an explosion of research reports in the psychiatric and behavioral addiction literature and neurogenetics. With this increased knowledge, the field has been rife with controversy. Moreover, with the advent of Whole Genome-Wide Studies (GWAS) and Whole Exome Sequencing (WES), along with Functional Genome Convergence, the multiple-candidate gene approach still has merit and is considered by many as the most prudent approach. However, it is the combination of these two approaches that will ultimately define real, genetic allelic relationships, in terms of both risk and etiology. Since 1996, our laboratory has coined the umbrella term Reward Deficiency Syndrome (RDS) to explain the common neurochemical and genetic mechanisms involved with both substance and non-substance, addictive behaviors.

Methods

This is a selective review of peer-reviewed papers primary listed in Pubmed and Medline.

Results

A review of the available evidence indicates the importance of dopaminergic pathways and resting-state, functional connectivity of brain reward circuits.

Discussion

Importantly, the proposal is that the real phenotype is RDS and impairments in the brain's reward cascade, either genetically or environmentally (epigenetically) induced, influence both substance and non-substance, addictive behaviors. Understanding shared common mechanisms will ultimately lead to better diagnosis, treatment and prevention of relapse. While, at this juncture, we cannot as yet state that we have “hatched the behavioral addiction egg”, we are beginning to ask the correct questions and through an intense global effort will hopefully find a way of “redeeming joy” and permitting homo sapiens live a life, free of addiction and pain.

Open access
Orvosi Hetilap
Authors: Barbara Kocsis-Deák, Bernadett Balla, Kristóf Árvai, Bálint Tobiás, Gabriella Győri, Balázs Járay, Eszter Székely, János Podani, János Kósa and Péter Lakatos

L, Ge M, et al. Whole exome sequencing identifies lncRNA GAS8-AS1 and LPAR4 as novel papillary thyroid carcinoma driver alternations. Hum Mol Genet. 2016; 25: 1875

Open access

.: Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. J. Natl. Cancer Inst., 2015, 107 (5), pii: djv053. 17 Buermans, H. P., den Dunnen, J

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Orvosi Hetilap
Authors: Anett Illés, Péter Balicza, Anikó Gál, Klára Pentelényi, Dóra Csabán, András Gézsi, Viktor Molnár and Mária Judit Molnár

–2404. 12 Balicza P, Grosz Z, Bencsik R, et al. Significance of whole exome sequencing in the diagnostics of rare neurological diseases – own experiences through a case presenting with ataxia. [A

Open access
Orvosi Hetilap
Authors: Balázs Sarkadi, Vince Kornél Grolmusz, Henriett Butz, Annamária Kövesdi, István Likó, Gábor Nyirő, Péter Igaz and Attila Patócs

–667. 35 Cascón A, Comino-Méndez I, Currás-Freixes M, et al. Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. J Natl Cancer Inst. 2015; 107: djv053

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Orvosi Hetilap
Authors: Zsolt Rónai, Zoltán Lippai, Zsuzsanna Elek and Anikó Somogyi

–32624. 28 Tetreault M, Bareke E, Nadaf J, et al. Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities. Expert Rev Mol Diagn. 2015; 15: 749

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than whole-exome sequencing for detecting exome variants. Proc Natl Acad Sci USA 2015; 112: 5473–5478. 23 Starokadomskyy P, Gemelli T, Rios JJ, et al. DNA polymerase

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