Epileptic encephalopathy

Gene: PLPBP

Green List (high evidence)

New gene name tag added PROSC should be approved HGNC gene symbol PLPBP. Pyridoxal phosphate-responsive epilepsy (PNPO associated) is rare form of autosomal recessive neonatal epileptic encephalopathy. Darin et al. (2016) PMID:27912044 reported that the five individuals with PROSC mutations all affected infants presented with seizures on day 1 of life, apart from subject 7, who presented at 1 month of age. Clinical characteristics of all five individuals all were noted as showing learning difficulties in addition to three with motor delay and four with speech delay. There are sufficient cases, and the phenotype, although complex, is relevant to this panel. On review with the internal clinical team it was thought that although vitamin B 6 abnormalities are currently in the exclusion criteria for the Epileptic encephalopathy panel, as it is treatable and has a good phenotypic fit it should still be included.

Created: 31 Oct 2017, 3:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, early-onset, vitamin B6-dependent, 617290

Publications

• 27912044