1.
Am J Med Genet A
; 170(8): 2219-21, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27242277
2.
Clin Case Rep
; 9(3): 1295-1298, 2021 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33768830
RESUMO
GABA transaminase deficiency should be considered in the differential diagnosis of early onset epileptic encephalopathies. This case was diagnosed post-mortem, but increased vigilance to this will allow for earlier diagnoses in other infants and families. This is a case study which involved diagnosis of a rare neurometabolic disorder in one of the babies in the family and eventual genetic counselling of the family. The family has been offered pre-implantation genetic diagnosis for future pregnancies. This case reporting has been approved by the hospital research and ethical committee.