Novel FARS2 mutations in patients with non-fatal early onset encephalopathy with or without epilepsy
Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Charles‐Joris Roux, Pascale de Lonlay, Julie Steffann, Isabelle Desguerre, Arnold Münnich, Jean‐Paul Bonnefont, Nathalie Boddaert, Agnès Rötig, Metodi Dimitrov Metodiev, Benedetta Ruzzenente
The paper reports three novel compound heterozygous FARS2 mutations in patients with non-fatal early onset encephalopathy and epilepsy.
European Journal of Human Genetics · Nov 9, 2020Peer-reviewedGenetic & Genomic Medicine