Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children
Author:
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10072-024-07586-6.pdf
Reference28 articles.
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2. Whittaker RG, Devine HE, Gorman GS et al (2015) Epilepsy in adults with mitochondrial disease: A cohort study. Ann Neurol 78(6):949–957
3. Begliuomini C, Magli G, Di Rocco M et al (2019) VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype. BMC Med Genet 20(1):77
4. Nevanlinna V, Konovalova S, Ceulemans B et al (2020) A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome. Eur J Med Genet 63(3):103766
5. Raviglione F, Conte G, Ghezzi D et al (2016) Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy. Am J Med Genet A 170(11):3004–3007
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