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Asparagine synthetase deficiency: clinical features and experience with asparagine supplementation -
CONCLUSIONS: ASNSD should be suspected in patients with progressive microcephaly and early-onset epilepsy despite normal metabolic screening, and CSF amino acid analysis is valuable for diagnosis. Although a reduction in seizure frequency was observed following L-asparagine supplementation in our patient, this finding should be interpreted cautiously because phenobarbital was discontinued and t...
Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report -
CONCLUSION: This case expands the genotypic and phenotypic spectrum of POMGNT1-related MEB, highlighting the potential for severe epilepsy and status epilepticus in adulthood. It also underscores the importance of long-term clinical follow-up and suggests that aggressive antiseizure treatment may achieve seizure control even in advanced stages of the disease.
Management Challenges and Clinical Characteristics of Refractory Status Epilepticus in Mexico: A 102 Patient Retrospective Cohort Study -
There is limited real-world evidence on the diagnosis, treatment, and outcomes of refractory status epilepticus (RSE) in Latin America. This study describes the clinical characteristics, management, and outcomes of RSE in a tertiary neurological intensive care unit (NICU) in Mexico. We conducted a retrospective cohort study of adults (≥ 18 years) with RSE admitted from 2010 to 2022. All patient...
Chemogenetic model of acute temporal lobe-like seizures in the area tempestas -
The piriform cortex was identified as a crucial ictogenic trigger zone in the 1980s. Surgical outcome studies in humans likewise suggest that this region contributes to seizure generation. Within the anterior piriform cortex, the "area tempestas (AT)" has been identified as a particularly sensitive site for triggering seizures in rodents and non-human primates. While many studies have examined ...
More than just a name: retrieval of unique entities in the anterior temporal lobe -
The capacity to retrieve semantic information, particularly related to unique entities, is thought to depend on the anterior temporal lobe (ATL). Evidence underpinning the ATL's characterization as a hub of the semantic network has depended largely on naming tasks requiring lexical retrieval. Consequently, questions about its role in accessing and integrating different types of information (e.g...
Diagnostic odyssey in type B Kufs disease: From autoimmune encephalitis mimicry to a frontotemporal dementia phenotype -
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