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Article

Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report.

American journal of medical genetics. Part A - 1 Nov 2020

Arvio Maria, Lähdetie Jaana

Abstract excerpt

Homozygous recessive or compound heterozygous mutations in SLC13A5-gene as a cause of Early Infantile Epileptic Encephalopathy subtype 25 (OMIM 615905) were published in 2014. Previous clinical reports describe young patients, aged <34 years. We describe 54- and 56-year-old siblings and show that the disorder linked to SLC13A5 is not just a pediatric problem but may affect the patient for decades resulting in...

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PMID: 33200910
DOI: 10.1002/ajmg.a.61802

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