Publications by authors named "A van Baalen"

We propose and prioritize important outcome domains that should be considered for future research investigating long-term outcomes (LTO) after new onset refractory status epilepticus (NORSE). The study was led by the international NORSE Institute LTO Working Group. First, literature describing the LTO of NORSE survivors was identified using a PubMed search and summarized to identify knowledge gaps.

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Objective: Describing spectrum, evolution, and clinical relationship of brain magnetic resonance imaging (MRI) findings in a large case series of children with febrile infection-related epilepsy syndrome (FIRES).

Methods: This retrospective study included 31 children with FIRES. Clinical data and MRI findings of the brain were evaluated.

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Febrile infection-related epilepsy syndrome (FIRES) of unknown aetiology is an extremely rare but severe epilepsy syndrome. It is characterized by a nonspecific febrile infection a few days before the onset of super-refractory status epilepticus, followed by refractory epilepsy and high morbidity in previously healthy children and young adults. To date, FIRES is incurable and irreversible.

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The pediatric febrile infection-related epilepsy syndrome (FIRES) manifests with encephalopathy with super-refractory status epilepticus (SE) a few days after or accompanying a febrile illness. It often results in refractory epilepsy and cognitive dysfunction in previously healthy children and adolescents. The underlying pathomechanism is unknown, which is why causative neuronal and/or synaptic antibodies have been discussed.

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Article Synopsis
  • The study investigates neurodevelopmental disorders caused by pathogenic variants, focusing on individuals without epilepsy, as little is known about their development and potential treatment endpoints beyond seizure control.
  • Researchers conducted a retrospective study collecting data from 71 individuals, including 44 new cases, assessing their medical histories and developmental outcomes using standardized measures.
  • Findings revealed that 25% of the participants did not have epilepsy, and those without it generally had better motor function and developmental outcomes, suggesting distinct clinical features between individuals with and without a history of seizures.
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