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The outcomes of consecutive pregnancies in Australian women with epilepsy -
OBJECTIVE: To investigate the extent to which seizure control and the occurrence of fetal malformation in an initial pregnancy can serve to anticipate the outcome in the next pregnancy.
Clinical and Molecular Spectrum of Proximal 16p11.2 BP4-5 Copy Number Variations: Insights From a Pediatric Cohort -
Copy number variations (CNVs) at the proximal 16p11.2 BP4-BP5 locus are among the most well-characterized genomic regions associated with neurodevelopmental disorders. We aimed to define the clinical and molecular spectrum of these CNVs in a pediatric cohort. A total of 19 patients with pathogenic or likely pathogenic 16p11.2 BP4-BP5 CNVs were identified among 2200 individuals referred for chro...
Apoptosis and Glial Marker Profiles in Hippocampus and Amygdala of Medically Intractable Temporal Lobe Epilepsy -
Medically intractable temporal lobe epilepsy is associated with potential neuronal and glial damage in key brain structures, including the hippocampus and amygdala. This study aimed to examine apoptosis, caspase expression, and glial activation markers in these regions, and to evaluate their associations with clinical variables. Hippocampal and amygdala tissues from 17 patients with medically i...
Post-neonatal epilepsy in newborns with neurologic conditions: a retrospective cohort study from a tertiary center -
CONCLUSION: Regular surveillance of epilepsy in high-risk newborns may aid in early diagnosis and treatment initiation.
De Novo 2.2 Mb 19q13.42-q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model -
U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre-mRNA splicing factor involved in the early stages of pre-mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic corpus callosum. Here, we describe a patient with a ...
Journal club: Seizure-related biomarkers of sudden unexpected death in epilepsy (SUDEP) in drug-resistant focal epilepsy (REPO(2)MSE): a prospective, multicentre case-control study -
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