B1 Vertaisarvioimaton kirjoitus tieteellisessä lehdessä
Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219ArginSLC13A5: A case report
Tekijät: Arvio M, Lähdetie J
Kustantaja: WILEY
Julkaisuvuosi: 2020
Journal: American Journal of Medical Genetics Part A
Tietokannassa oleva lehden nimi: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Lehden akronyymi: AM J MED GENET A
Vuosikerta: 182
Numero: 11
Aloitussivu: 2671
Lopetussivu: 2674
Sivujen määrä: 4
ISSN: 1552-4825
DOI: https://doi.org/10.1002/ajmg.a.61802
Tiivistelmä
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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