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Pyrophosphatase 2 Deficiency: Clinical Presentation, Diagnosis and Management

PubMed - functional seizures Published 19 Oct 2026 Relevancy: Not reviewed

CONCLUSIONS: PPA2 deficiency has a high mortality rate following exposure to common childhood viruses in children around and under the age of 3 and in teenagers exposed to ethanol. We have presented current therapeutic approaches gathered from a worldwide survey of clinicians treating their patients, possible pathogenic mechanisms and inheritance peculiarities of the condition and provide a comprehensive review of the current recommendations surrounding patients' clinical management.

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Prognostic Value of Sudomotor Small-Fiber Function and Large Nerves for Accelerated Renal Decline in Type 2 Diabetes: A Real-World Cohort Study

PubMed - small fiber neuropathy Published 19 Oct 2026 Relevancy: Not reviewed

CONCLUSION: A distinct prognostic dissociation exists within the diabetic neuro-renal axis. Sudomotor small-fiber dysfunction primarily reflects established microvascular impairment, whereas large motor nerve degeneration demonstrates independent prognostic value for future accelerated renal decline. Incorporating this neurofunctional phenotype into traditional clinical models yields substantial individualized risk reclassification, thereby potentially aiding in identifying high-risk...

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Surgical management of Rasmussen's encephalitis: A systematic review and meta-analysis of long-term seizure and functional outcomes

PubMed - functional seizures Published 19 Oct 2026 Relevancy: Not reviewed

CONCLUSION: Complete hemispheric disconnection (whether via hemispherotomy or functional hemispherectomy) is highly effective for controlling seizures in RE, whereas focal resections provide inadequate control. Earlier surgical intervention and shorter disease duration significantly improve long-term seizure freedom. These findings support prompt referral for hemispheric disconnection in patients with medically refractory RE rather than delaying surgery with prolonged immunomodulatory trials.

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MRI Characterization of Structural Brain Abnormalities in NGLY1 Deficiency

PubMed - functional seizures Published 19 Oct 2026 Relevancy: Not reviewed

BACKGROUND AND OBJECTIVES: NGLY1 (N-Glycanase 1) deficiency is an ultrarare autosomal recessive disorder affecting ~165 patients worldwide, characterized by developmental delay, hyperkinetic movement disorders and shortened life expectancy. Despite its severe neurological manifestations, comprehensive neuroimaging characterization has been limited to case reports and small descriptive studies. Our objective was to investigate alterations in brain morphology in patients with NGLY1 deficiency and...

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Amplitude-integrated electroencephalogram (aEEG): A bedside window into newborn brain function in the NICU

PubMed - functional seizures Published 19 Oct 2026 Relevancy: Not reviewed

Amplitude-integrated electroencephalography (aEEG) remains an important tool for bedside neonatal brain monitoring. The rapid application of aEEG offers critical practical advantages for bedside clinicians assessing infants at risk for brain injury. aEEG has a distinct clinical niche in evaluations for hypoxic-ischemic encephalopathy (HIE) and as a first-line tool for seizure detection, alongside conventional video electroencephalogram (cEEG). Ultimately, the integration of aEEG with a broader...

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