Putative founder effect of Arg338* <scp> AP4M1 </scp> ( <scp>SPG50</scp> ) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

Aurélie Becker(Centre d’Investigation Clinique Innovation Technologique de Nancy), Céline Bonnet(Inserm), Mina Zamani(Shahid Chamran University of Ahvaz), Laëtitia Lambert(Inserm), Élise Schaefer(Pennsylvania State University), Bruno Leheup(Hôpital d'Enfants), Saeid Sadeghian(Ahvaz Jundishapur University of Medical Sciences), Christian Zix, Philippe Jonveaux(Inserm), Guillemette Clément(Inserm), Sarah Duerinckx(Université Libre de Bruxelles), Mareike Selig(Johannes Gutenberg University Mainz), Charlotte Felici(Inserm), Anne de Saint Martin(Epilepsy Foundation), Jawaher Zeighami, Isabelle Pirson(Université Libre de Bruxelles), Hamid Galehdari(Shahid Chamran University of Ahvaz), Marie‐Thérèse Abi‐Warde(Epilepsy Foundation), Can Ding(Johannes Gutenberg University Mainz), Reza Azizi Malamiri(Ahvaz Jundishapur University of Medical Sciences), Gholamreza Shariati(Ahvaz Jundishapur University of Medical Sciences), Tahereh Seifi(Shahid Chamran University of Ahvaz), Marc Abramowicz(Université Libre de Bruxelles), Myriam Bronner(Centre Hospitalier Régional et Universitaire de Nancy), Geneviève Lefort(Inserm), M. Renaud(Université de Tours)

Clinical Genetics

November 13, 2022

Cited by 6

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Putative founder effect of Arg338* <scp> <i>AP4M1</i> </scp> ( <scp>SPG50</scp> ) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families