PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 30668673-1 2019 Biallelic pathogenic variants in PLPBP (formerly called PROSC) have recently been shown to cause a novel form of vitamin B6-dependent epilepsy, the pathophysiological basis of which is poorly understood. Vitamin B 6 113-123 pyridoxal phosphate binding protein Homo sapiens 56-61 30525118-2 2018 Recently, biallelic variants in PLPBP, formerly known as PROSC, were identified as a novel cause of vitamin B6-dependent epilepsies. Vitamin B 6 100-110 pyridoxal phosphate binding protein Homo sapiens 57-62 29689137-0 2018 Insight into vitamin B6 -dependent epilepsy due to PLPBP (previously PROSC) missense mutations. Vitamin B 6 13-23 pyridoxal phosphate binding protein Homo sapiens 69-74 29689137-1 2018 Vitamin B6 -dependent genetic epilepsy was recently associated to mutations in PLPBP (previously PROSC), the human version of the widespread COG0325 gene that encodes TIM-barrel-like pyridoxal phosphate (PLP)-containing proteins of unclear function. Vitamin B 6 0-10 pyridoxal phosphate binding protein Homo sapiens 97-102 28391250-0 2017 Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy. Vitamin B 6 55-66 pyridoxal phosphate binding protein Homo sapiens 29-34 28391250-11 2017 We therefore confirm PROSC as a novel gene for vitamin-B6-dependent epilepsy and delineate a non-specific plasma vitamin B6 profile under pyridoxine treatment. Vitamin B 6 47-57 pyridoxal phosphate binding protein Homo sapiens 21-26 27912044-0 2016 Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. Vitamin B 6 78-88 pyridoxal phosphate binding protein Homo sapiens 13-18