Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE

Autor: Maria T. Papadopoulou, Lorenzo Muccioli, Francesca Bisulli, Kerstin Alexandra Klotz, Carmen Fons, Marina Trivisano, Teia Kabulashvili, Nicola Specchio, Gaetan Lesca, Alexis Arzimanoglou

Publikováno v: Epilepsia Open, Vol 9, Iss 3, Pp 996-1006 (2024)

Abstract Objective The increasingly rapid pace of advancement in genetic testing may lead to inequalities in technical and human resources with a negative impact on optimal epilepsy clinical practice. In this view, the European Reference Network (ERN

Externí odkaz: https://doaj.org/article/a4b6b2fc2f654ee089043121e6151671

Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet

Autor: Maria T. Papadopoulou, Efterpi Dalpa, Michalis Portokalas, Irene Katsanika, Katerina Tirothoulaki, Martha Spilioti, Spyros Gerou, Barbara Plecko, Athanasios E. Evangeliou

Publikováno v: JIMD Reports, Vol 60, Iss 1, Pp 3-9 (2021)

Abstract Mutations in the FOLR1 gene, encoding for the folate alpha receptor (FRa), represent a rare recessive genetic cause of cerebral folate deficiency (CFD), a potentially reversible neurometabolic condition. Patients typically present with devel

Externí odkaz: https://doaj.org/article/befcd840d36a45b8806cbf9daad17f2b

De novo mutations in CLDN5: alternating hemiplegia of childhood or not?

Autor: Eleni Panagiotakaki, Maria T Papadopoulou, Gaetan Lesca, Alexis Arzimanoglou, Mohamad A Mikati

Publikováno v: Brain.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c232e0dd7e0daac3e1ba6751dc827196
https://doi.org/10.1093/brain/awad053

Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet

Autor: Irene Katsanika, Martha Spilioti, Spyros Gerou, Efterpi Dalpa, Barbara Plecko, Michalis Portokalas, Katerina Tirothoulaki, Maria T. Papadopoulou, Athanasios Evangeliou

Publikováno v: JIMD Reports
JIMD Reports, Vol 60, Iss 1, Pp 3-9 (2021)

Mutations in the FOLR1 gene, encoding for the folate alpha receptor (FRa), represent a rare recessive genetic cause of cerebral folate deficiency (CFD), a potentially reversible neurometabolic condition. Patients typically present with developmental

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0858cfaa785c010ec8a03095251eea62
https://doi.org/10.1002/jmd2.12206

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency

Autor: Nicola Longo, Joy Lee, Nanda M. Verhoeven-Duif, Levinus A. Bok, Arushi Gahlot Saini, R. Lilje, Hanka Dekker, Erle Kristensen, Saikat Santra, Peter E. Clayton, Damayanti Rusli Sjarif, Flavia Balbo Piazzon, Clara D.M. van Karnebeek, Johan L.K. Van Hove, Frits A. Wijburg, Monica Boyer, Pasquale Striano, Barbara Plecko, Anibh M. Das, Emma Footitt, Daniela Buhas, Sylvia Stockler-Ipsiroglu, François Feillet, Hans Hartmann, Philippa B. Mills, Laura A. Tseng, François Boemer, Jose E. Abdenur, Athanasios Evangeliou, Curtis R. Coughlin, Catherine Ashmore, Sameer M. Zuberi, Phillip L. Pearl, Roelineke J. Lunsing, Sidney M. Gospe, Majdi Kara, Maria T. Papadopoulou

Publikováno v: Journal of inherited metabolic disease, 44(1), 178-192. Springer Netherlands
Journal of Inherited Metabolic Disease, 44(1), 178-192. SPRINGER

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of alpha-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopath

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd4287a08df287ea8d4a1d7feccc9924
http://hdl.handle.net/11567/1040301