Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome)

Autor: Cornelia Kraus, Christophe Rauch, Steffen Uebe, Georgia Vasileiou, Frank Kerling, Andreas Winterpacht, Katalin L.M.L. Hetzelt, Christian Thiel, Arif B. Ekici, Christiane Zweier, Martin Winterholler, André Reis

Publikováno v: Hetzelt, Katalin L M L; Winterholler, Martin; Kerling, Frank; Rauch, Christophe; Ekici, Arif B; Winterpacht, Andreas; Vasileiou, Georgia; Uebe, Steffen; Thiel, Christian T; Kraus, Cornelia; Reis, André; Zweier, Christiane (2022). Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome). American journal of medical genetics. Part A, 188(1), pp. 292-297. Wiley 10.1002/ajmg.a.62496

Cohen-Gibson syndrome is a rare genetic disorder, characterized by fetal or early childhood overgrowth and mild to severe intellectual disability. It is caused by heterozygous aberrations in EED, which encodes an evolutionary conserved polycomb group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef4be306d13ac349928937e5432bae5d
https://boris.unibe.ch/162629/1/American_J_of_Med_Genetics_Pt_A_-_2021_-_Hetzelt_-_Manifestation_of_epilepsy_in_a_patient_with_EED_u2010related_overgrowth_.pdf

A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2

Autor: André Reis, Christiane Zweier, Christian Thiel, Cornelia Kraus, Arif B. Ekici, Regina Trollmann, Katalin L.M.L. Hetzelt, Stefan Kusnik, Steffen Uebe

Publikováno v: European Journal of Medical Genetics. 63:103998

Autosomal-recessive spinocerebellar ataxia type 18 (SCAR18) is a rare neurologic disorder. It is caused by bi-allelic aberrations in the GRID2 gene, encoding an ionotropic glutamate receptor. In total, 20 affected individuals with mainly homozygous/c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c7bd8871d926711e3461c8e40adf58
https://doi.org/10.1016/j.ejmg.2020.103998