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[Pyridoxine-dependent epilepsy due to deficiency in the PNPO gene]. 2019

J Garcia-Ezquiaga, and M L Carrasco-Marina, and N Gutierrez-Cruz, and G Iglesias-Escalera, and M Castro-Reguera, and B Perez-Gonzalez
Hospital Universitario del Tajo, Aranjuez, Espana.

UI MeSH Term Description Entries
D011734 Pyridoxaminephosphate Oxidase An enzyme catalyzing the deamination of pyridoxaminephosphate to pyridoxal phosphate. It is a flavoprotein that also oxidizes pyridoxine-5-phosphate and pyridoxine. EC 1.4.3.5. Pyridoxinephosphate Oxidase,Pyridoxine-5-Phosphate Oxidase,Oxidase, Pyridoxaminephosphate,Oxidase, Pyridoxine-5-Phosphate,Oxidase, Pyridoxinephosphate,Pyridoxine 5 Phosphate Oxidase
D011736 Pyridoxine The 4-methanol form of VITAMIN B 6 which is converted to PYRIDOXAL PHOSPHATE which is a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. Although pyridoxine and Vitamin B 6 are still frequently used as synonyms, especially by medical researchers, this practice is erroneous and sometimes misleading (EE Snell; Ann NY Acad Sci, vol 585 pg 1, 1990). Pyridoxin,Pyridoxine Hydrochloride,Pyridoxol,Pyridoxol Hydrochloride,Rodex
D001928 Brain Diseases, Metabolic Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function. Central Nervous System Metabolic Disorders,Encephalopathies, Metabolic,Metabolic Disorders, Brain,Acquired Metabolic Diseases, Brain,Acquired Metabolic Diseases, Nervous System,Acquired Metabolic Encephalopathies,Brain Diseases, Metabolic, Acquired,Brain Disorders, Metabolic,Brain Disorders, Metabolic, Acquired,Brain Syndrome, Metabolic,Brain Syndrome, Metabolic, Acquired,CNS Metabolic Disorders,CNS Metabolic Disorders, Acquired,Encephalopathy, Metabolic, Acquired,Metabolic Brain Diseases,Metabolic Brain Diseases, Acquired,Metabolic Brain Syndrome,Metabolic Brain Syndrome, Acquired,Metabolic Brain Syndromes,Metabolic Brain Syndromes, Acquired,Metabolic Diseases, Acquired, Nervous System,Metabolic Disorder, Central Nervous System, Acquired,Metabolic Disorders, CNS,Metabolic Disorders, CNS, Acquired,Metabolic Disorders, Central Nervous System,Metabolic Encephalopathies,Nervous System Acquired Metabolic Diseases,Acquired Metabolic Encephalopathy,Brain Disease, Metabolic,Brain Disorder, Metabolic,Brain Metabolic Disorder,Brain Metabolic Disorders,CNS Metabolic Disorder,Encephalopathies, Acquired Metabolic,Encephalopathy, Acquired Metabolic,Encephalopathy, Metabolic,Metabolic Brain Disease,Metabolic Brain Disorder,Metabolic Brain Disorders,Metabolic Disorder, Brain,Metabolic Disorder, CNS,Metabolic Encephalopathies, Acquired,Metabolic Encephalopathy,Metabolic Encephalopathy, Acquired
D002886 Chromosomes, Human, Pair 17 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 17
D004827 Epilepsy A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313) Aura,Awakening Epilepsy,Seizure Disorder,Epilepsy, Cryptogenic,Auras,Cryptogenic Epilepsies,Cryptogenic Epilepsy,Epilepsies,Epilepsies, Cryptogenic,Epilepsy, Awakening,Seizure Disorders
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D012640 Seizures Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." Absence Seizure,Absence Seizures,Atonic Absence Seizure,Atonic Seizure,Clonic Seizure,Complex Partial Seizure,Convulsion,Convulsions,Convulsive Seizure,Convulsive Seizures,Epileptic Seizure,Epileptic Seizures,Generalized Absence Seizure,Generalized Tonic-Clonic Seizures,Jacksonian Seizure,Myoclonic Seizure,Non-Epileptic Seizure,Nonepileptic Seizure,Partial Seizure,Seizure,Seizures, Convulsive,Seizures, Focal,Seizures, Generalized,Seizures, Motor,Seizures, Sensory,Tonic Clonic Seizure,Tonic Seizure,Tonic-Clonic Seizure,Atonic Absence Seizures,Atonic Seizures,Clonic Seizures,Complex Partial Seizures,Convulsion, Non-Epileptic,Generalized Absence Seizures,Myoclonic Seizures,Non-Epileptic Seizures,Nonepileptic Seizures,Partial Seizures,Petit Mal Convulsion,Seizures, Auditory,Seizures, Clonic,Seizures, Epileptic,Seizures, Gustatory,Seizures, Olfactory,Seizures, Somatosensory,Seizures, Tonic,Seizures, Tonic-Clonic,Seizures, Vertiginous,Seizures, Vestibular,Seizures, Visual,Single Seizure,Tonic Seizures,Tonic-Clonic Seizures,Absence Seizure, Atonic,Absence Seizure, Generalized,Absence Seizures, Atonic,Absence Seizures, Generalized,Auditory Seizure,Auditory Seizures,Clonic Seizure, Tonic,Clonic Seizures, Tonic,Convulsion, Non Epileptic,Convulsion, Petit Mal,Convulsions, Non-Epileptic,Focal Seizure,Focal Seizures,Generalized Seizure,Generalized Seizures,Generalized Tonic Clonic Seizures,Generalized Tonic-Clonic Seizure,Gustatory Seizure,Gustatory Seizures,Motor Seizure,Motor Seizures,Non Epileptic Seizure,Non Epileptic Seizures,Non-Epileptic Convulsion,Non-Epileptic Convulsions,Olfactory Seizure,Olfactory Seizures,Partial Seizure, Complex,Partial Seizures, Complex,Seizure, Absence,Seizure, Atonic,Seizure, Atonic Absence,Seizure, Auditory,Seizure, Clonic,Seizure, Complex Partial,Seizure, Convulsive,Seizure, Epileptic,Seizure, Focal,Seizure, Generalized,Seizure, Generalized Absence,Seizure, Generalized Tonic-Clonic,Seizure, Gustatory,Seizure, Jacksonian,Seizure, Motor,Seizure, Myoclonic,Seizure, Non-Epileptic,Seizure, Nonepileptic,Seizure, Olfactory,Seizure, Partial,Seizure, Sensory,Seizure, Single,Seizure, Somatosensory,Seizure, Tonic,Seizure, Tonic Clonic,Seizure, Tonic-Clonic,Seizure, Vertiginous,Seizure, Vestibular,Seizure, Visual,Seizures, Generalized Tonic-Clonic,Seizures, Nonepileptic,Sensory Seizure,Sensory Seizures,Single Seizures,Somatosensory Seizure,Somatosensory Seizures,Tonic Clonic Seizures,Tonic-Clonic Seizure, Generalized,Tonic-Clonic Seizures, Generalized,Vertiginous Seizure,Vertiginous Seizures,Vestibular Seizure,Vestibular Seizures,Visual Seizure,Visual Seizures
D013763 Tetrahydrofolates Compounds based on 5,6,7,8-tetrahydrofolate.

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