D

DE KOVEL C. G. F.

Last name: DE KOVEL C. G. F.

2015 (v1)

Publication

Metadata-only

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Hardies K. De Kovel C. G. F. Weckhuysen S.

The epileptic encephalopathies are a clinically and aetiologically heterogeneous subgroup of epilepsy syndromes. Most epileptic encephalopathies have a genetic cause and patients are often found to carry a heterozygous de novo mutation in one of the genes associated with the disease entity. Occasionally recessive mutations are identified: a...

Uploaded on: April 14, 2023