The Conserved Family of the Pyridoxal Phosphate-Binding Protein (PLPBP) and Its Cyanobacterial Paradigm PipY [PDF]
Life, 2022 The PLPBP family of pyridoxal phosphate-binding proteins has a high degree of sequence conservation and is represented in all three domains of life. PLPBP members, of which a few representatives have been studied in different contexts, are single-domain ...
Asuncion Contreras +2 more
exaly +9 more sources
A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5′-Phosphate Oxidase, and PLPBP Deficiency [PDF]
Frontiers in Genetics, 2022 Objective: To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6–dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 mutation, pyridox(am)ine-5′-phosphate oxidase ...
Zhixian Yang, Yuehua Zhang, Gong Pan
exaly +7 more sources
Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature [PDF]
JIMD Reports, 2021 Vitamin B6‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP).
Sarah Donoghue, Oliver Heath
exaly +8 more sources
A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy [PDF]
JIMD Reports, 2021 Pyridoxine‐dependent epilepsy (PDE) is a relatively rare subgroup of epileptic disorders. They generally present in infancy as an early onset epileptic encephalopathy or seizures, refractory to standard treatments, with rapid and variable responses to ...
Baiba Lace, Nicolas Chrestian
exaly +7 more sources
Annals of the Child Neurology SocietyIntroduction Genetic and metabolic conditions can mimic diagnoses such as hypoxic‐ischemic encephalopathy, meningoencephalitis, epilepsy, and opsoclonus‐myoclonus‐ataxia syndrome (OMAS). Without a high index of suspicion and proper testing, diagnoses can
Mrinmayee Takle
exaly +5 more sources
Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene [PDF]
JIMD Reports, 2019 Vitamin B6‐responsive epilepsies are a group of genetic disorders including ALDH7A1 deficiency, PNPO deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs.
Sabine Grønborg +2 more
exaly +8 more sources
On the edge—A diagnostic odyssey [PDF]
Clinical Case Reports (discontinued), 2022 The diagnostic odyssey of a child with epileptic encephalopathy was resolved by rapid whole genome sequencing. This identified a rare form of pyridoxine responsive epilepsy due to a pathogenic variant in PLPBP.
Josh Bonkowsky +2 more
exaly +5 more sources
Biochemical and Proteomic Studies of Human Pyridoxal 5′-Phosphate-Binding Protein (PLPBP) [PDF]
ACS Chemical Biology, 2020 The pyridoxal 5′-phosphate-binding protein (PLPBP) is an evolutionarily conserved protein linked to pyridoxal 5′-phosphate-binding. Although mutations in PLPBP were shown to cause vitamin B6-dependent epilepsy, its cellular role and function remain ...
Stephan Sieber
exaly +5 more sources
Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases [PDF]
Frontiers in Neurology, 2022 PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in PLPBP and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with
Daniela Buhas +2 more
exaly +5 more sources
Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect – First case report from Pakistan and review of literature [PDF]
Annals of Medicine and Surgery, 2020 Introduction The Vitamin B6-dependent epilepsies are a heterogeneous group of autosomal recessive disorders usually characterized by neonatal onset seizures responsive to treatment with vitamin B6 available as pyridoxine (PN) or as the biologically ...
Ralph Deberardinis +2 more
exaly +5 more sources