Associated Papers
Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2: Expanding phenotype and literature review.
Kaur N et al.
Annals of Human Genetics, 2025
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease.
Astner-Rohracher A et al.
Frontiers in Neurology, 2022
Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency.
Wei X et al.
Human Mutation, 2020
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