B1 Non-refereed article in a scientific journal
Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219ArginSLC13A5: A case report
Authors: Arvio M, Lähdetie J
Publisher: WILEY
Publication year: 2020
Journal: American Journal of Medical Genetics Part A
Journal name in source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Journal acronym: AM J MED GENET A
Volume: 182
Issue: 11
First page : 2671
Last page: 2674
Number of pages: 4
ISSN: 1552-4825
DOI: https://doi.org/10.1002/ajmg.a.61802
Abstract
Homozygous recessive or compound heterozygous mutations inSLC13A5-gene as a cause of Early Infantile Epileptic Encephalopathy subtype 25 (OMIM 615905) were published in 2014. Previous clinical reports describe young patients, aged SLC13A5is not just a pediatric problem but may affect the patient for decades resulting in profound intellectual disability, severe motor handicap, and abnormal electroencephalography without active epilepsy. Other diagnostic hints in adults are small size, spasticity and severe abrasion due to amelogenesis imperfecta of the hypoplastic type.
Homozygous recessive or compound heterozygous mutations inSLC13A5-gene as a cause of Early Infantile Epileptic Encephalopathy subtype 25 (OMIM 615905) were published in 2014. Previous clinical reports describe young patients, aged SLC13A5is not just a pediatric problem but may affect the patient for decades resulting in profound intellectual disability, severe motor handicap, and abnormal electroencephalography without active epilepsy. Other diagnostic hints in adults are small size, spasticity and severe abrasion due to amelogenesis imperfecta of the hypoplastic type.
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