Publications by authors named "A Riela"

Article Synopsis
  • Protein lipoylation is crucial for cell metabolism, with the H-protein (GCSH) playing a key role in this process for important enzymes and one-carbon metabolism.
  • A study of six patients with pathogenic variants in GCSH showed a range of clinical issues, from severe neonatal encephalopathy to milder developmental delays and movement disorders.
  • Functional analyses revealed that most mutations led to reduced mitochondrial activity and metabolic deficiencies, highlighting the importance of understanding these variants to guide treatment options.
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Childhood stoke is increasingly recognized, but studies remain largely descriptive. Important differences from adult stroke include the following: (1) frequently delayed or missed diagnosis, (2) heterogenous and overlapping risk factors, and (3) developmental differences in the cerebrovascular, neurologic, and coagulation systems. These aspects limit the extrapolation of the results of adult stroke research and present challenges in caring for children with stroke.

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The clinical and radiographic findings of 68 children and adolescents with nontraumatic intraparenchymal brain hemorrhage were analyzed retrospectively. There were 43 boys and 25 girls, and the average age was 7.1 years (range, 3 months to 18 years).

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Objective: The risk of seizure relapse after antiepileptic drug (AED) discontinuation in children has been reported to vary between 6% and 40%. It has been suggested that neurologic deficit and mental retardation are poor prognostic factors for seizure relapse after AED discontinuation. Because epileptic children with cerebral palsy (CP) have neurologic deficits, and many have mental retardation, it is important to know their risk for seizure relapse.

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Reading epilepsy usually presents with jaw myoclonus and generalized tonic-clonic seizures. We report a 12-year-old girl with absence seizures induced by reading, which were diagnosed by video EEG. An absence seizure with generalized 3-Hz spike-and-wave discharge occurred within 30 seconds of each reading session.

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