Results 81 to 90 of about 281 (94)

Integrated genomic and transcriptomic analysis reveals candidate genes associated with reproductive performance in Hetian Black chickens. [PDF]

Poult Sci
Liu T, Li F, Wang C, Liu M, Turxunjan N, Hou W, Liu Y, Qu L, Wang H.   +8 more
europepmc   +1 more source

Blood methylation biomarkers are associated with diabetic kidney disease progression in type 1 diabetes

Syreeni A, Dahlström EH, Smyth LJ, Hill C, Mutter S, Gupta Y, Harjutsalo V, Chen Z, Natarajan R, Krolewski AS, Hirschhorn JN, Florez JC, GENIE consortium, Maxwell AP, Groop P, McKnight AJ, Sandholm N.   +16 more
europepmc   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies. [PDF]

Mov Disord Clin Pract
Mohammad S, Ebrahimi-Fakhari D, Morales-Briceno H.   +2 more
europepmc   +1 more source

Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye–Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency

Neuropediatrics, 2022
AbstractTo describe a new phenotype and the diagnostic workup of a vitamin-B6-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. Following immediate and impressive clinical response to treatment with pyridoxine, metabolic screening for vitamin-B6 ...
Kalser, Judith, Giuliano, Fabienne, Peralta, Maria, Plecko, Barbara, Bölsterli, Bigna Katrin   +4 more
openaire   +4 more sources

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Novel Variants in PLPBP, SCN1A, and SLC6A1: Genetics, Bioinformatics, and Clinical Elucidation of Three Distinct Cases of Developmental and Epileptic Encephalopathy.

Journal of Neurogenetics
Developmental and epileptic encephalopathies (DEEs) are severe early-onset disorders featuring refractory seizures, abnormal EEGs, and developmental delays. Clinically and etiologically heterogeneous, they include subtypes such as Dravet syndrome and EIMFS.
Mohammad Barzegar, Mortaza Bonyadi, Haneieh Honarmand   +2 more
exaly   +3 more sources

PLPHP Deficiency: Clinical, Genetic, Biochemical, and Mechanistic Insights. [PDF]

Brain, 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.
Izabella Pena, Wyeth Wasserman, Khalid Al-Thihli   +2 more
exaly   +5 more sources

Role of the Conserved Pyridoxal 5'-Phosphate-Binding Protein YggS/PLPBP in Vitamin B6 and Amino Acid Homeostasis.

Bioscience, Biotechnology and Biochemistry, 2022
Tomokazu Ito
exaly