Results 81 to 90 of about 271 (90)
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Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene
Metabolic Brain Disease, 2022Seizures in newborn infants may be the first finding of hereditary metabolic diseases. Pyridoxine-dependent epilepsy (PDE) is a treatable disorder associated with defects in the one of ALDH7A1, PNPO, or PLPBP genes and it is uncommon but progresses with persistent seizures in the neonatal and infancy period.
Deniz Kor, Rojan Ipek, Kor Deniz
exaly +4 more sources
Neuropediatrics, 2022
To describe a new phenotype and the diagnostic workup of a vitamin-B 6 -dependent epilepsy due to pyridoxal 5′-phosphate-binding protein (PLPBP) deficiency in an infant with early-onset epilepsy at the age of 5 years 6 months.
J. Kalser +4 more
semanticscholar +3 more sources
To describe a new phenotype and the diagnostic workup of a vitamin-B 6 -dependent epilepsy due to pyridoxal 5′-phosphate-binding protein (PLPBP) deficiency in an infant with early-onset epilepsy at the age of 5 years 6 months.
J. Kalser +4 more
semanticscholar +3 more sources
Journal of Neurogenetics
Developmental and epileptic encephalopathies (DEEs) are severe early-onset disorders featuring refractory seizures, abnormal EEGs, and developmental delays.
Haneieh Honarmand +3 more
semanticscholar +2 more sources
Developmental and epileptic encephalopathies (DEEs) are severe early-onset disorders featuring refractory seizures, abnormal EEGs, and developmental delays.
Haneieh Honarmand +3 more
semanticscholar +2 more sources
PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy
Epilepsia Open, 2018Ayataka Fujimoto +2 more
exaly