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Sida 1 från 120 resultat
Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.
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Prominent neurological abnormalities, including myoclonus, seizures, ataxia, and hearing loss, have been noted in juvenile-onset biotin-responsive MCD. The underlying defect in many of these patients, who generally present in the first year of life, appears to be a deficiency of biotinidase. We have
Effect of biotin depletion on spike-wave seizures in the tottering mutant mouse.
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Influence of depletion of biotin on spontaneously occurring spike-wave seizures in the tottering mutant mouse was tested by electrocorticographic recordings over three hours in five mice fed a biotin deficient diet. Frequency of seizures as well as percent of time with epileptic discharges were
Biotin responsive seizures and encephalopathy due to biotinidase deficiency.
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[Convulsions in an infant with biotin-dependent 3-methylcrotonylglycinuria].
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Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
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Multiple carboxylase deficiency is characterized by deficient activities of three biotin-dependent enzymes, propionyl coenzyme A carboxylase, pyruvate carboxylase, and beta-methylcrotonyl coenzyme A carboxylase. A newborn infant was seen with metabolic ketoacidosis, hyperammonemia, organic aciduria,
Biotin-Thiamine-Responsive Basal Ganglia Disease
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Clinical characteristics: Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in childhood, early infancy, or adulthood. Prompt administration of biotin and thiamine early in the disease course results in partial
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.
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A patient with early-onset 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency showing a severe clinical course is described. Abnormal eye and head movements suggestive of seizures were noticed soon after birth. Tonic convulsions at the age of 10 weeks led to admission. Urinary organic acid
Spatio-temporal profile of DNA fragmentation and its relationship to patterns of epileptiform activity following focally evoked limbic seizures.
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The specific electrographic activity responsible for seizure-induced DNA damage remains little explored. We therefore examined the regional and temporal appearance of DNA fragmentation and cell death and its relationship to specific electrographic seizure patterns in a rat model of focally evoked
High susceptibility of the anterior and posterior piriform cortex to induction of convulsions by bicuculline.
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Accumulating evidence suggests that the piriform cortex (PC) plays a critical role in the development of limbic motor seizures. In the anterior piriform cortex (aPC), a functionally defined, discrete epileptogenic site has been previously identified by unilateral microinjection of bicuculline in
Unusual case of biotin-thiamine responsive encephalopathy without basal ganglia involvement
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Biotin-thiamine-responsive encephalopathy, also known as biotin-responsive basal ganglia disease, is characterized by high T2 signal in the basal ganglia (caudate and putamina), which is reported as a typical feature of the disorder. Brain magnetic resonance imaging in our patient, who presented
[Biotinidase deficiency. Progressive encephalopathy curable with biotin].
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BACKGROUND
Multiple carboxylase deficiency is a rare cause of progressive encephalopathy. There are 2 forms: the neonatal-onset form of holocarboxylase synthetase deficiency and the late-onset form of biotinidase deficiency. This report describes a case of biotinidase deficiency.
METHODS
A boy began
Biotin-responsive infantile encephalopathy: EEG-polygraphic study of a case.
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A case of an infant suffering from progressive lethargy, sparse scalp hair, autistic-like behavior, myoclonias, and drug-resistant generalized seizures is reported. Laboratory investigations revealed, in the absence of metabolic acidosis, an increased urinary excretion of 2-ketoglutaric acid and a
Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease
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Aim: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics.
Neonatal seizures: diagnosis and management.
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The recognition of epileptic seizures in newborns is challenging as neonates exhibit a variety of paroxysmal motor phenomena, some epileptic but others not. The distinction, frequently requiring video-EEG monitoring, is crucial for management. Causes are often multi-factorial, specific to
[Convulsions and epileptic syndromes of the newborn infant. Forms of presentation, study and treatment protocols].
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OBJECTIVE
To review the different forms of presentation of convulsions and epilepsies in the newborn, and to establish a protocol for diagnosis and treatment.
METHODS
To achieve this we reviewed the literature and our own series over the past 15 years of 179 newborn babies with
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