Epilepsy and Seizure News
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Genotypic and phenotypic heterogeneity in tubulinopathies: insights from a Turkish multicenter cohort -
CONCLUSION: Our findings underscore the profound genetic and phenotypic heterogeneity of tubulin-related disorders. The identification of rare variants and specific complications, such as SUDEP, highlights the necessity for comprehensive clinical monitoring and standardized management guidelines to optimize outcomes for this complex patient population.
"Severe intellectual disability with cardiac and dermatologic involvement due to homozygous METTL23 frameshift mutation: a case report of two Turkish sisters" -
CONCLUSION: These cases represent one of the most severe phenotypic presentations of METTL23-related intellectual disability reported to date. The co-occurrence of profound intellectual impairment, epilepsy, systemic involvement (mitral valve prolapse), and dermatologic findings (nummular eczema) suggests that the homozygous form of this frameshift mutation may be associated with a more severe ...
Evaluating diagnostic yield of ambulatory EEG for interictal epileptiform discharges and seizures -
CONCLUSIONS: This study identified factors associated with diagnostic yield of aEEG for observing IEDs and seizures. At least 48-hours of aEEG was highest yield for seizures, and longer studies may be appropriate for people with lower seizure frequency. IEDs were less dependent on study length and were more associated with pre-aEEG certainty of epilepsy diagnosis.
Seizure freedom after vagus nerve stimulation in a patient with SCN3A-related network epilepsy and incomplete penetrance: A case report -
Genetic-based epilepsies often present as distributed neural network disorders, challenging traditional focal versus generalized classifications. We report a 20-year-old male with drug-resistant epilepsy associated with a previously unreported SCN3A missense variant (c.5970C > G; p.Ser1990Arg). Despite failure of multiple anti-seizure medications and a non-localizing electroclinical profile, th...
Ten-year cognitive outcomes following epilepsy surgery: Temporal lobectomy versus selective amygdalohippocampectomy -
OBJECTIVE: This study aimed to assess long-term memory outcomes in patients with temporal lobe epilepsy (TLE) who underwent anterior temporal lobectomy (ATL) or selective amygdalohippocampectomy (SAH), compared to nonoperated TLE over a 10-year follow-up period.
Loss of microglial ATM drives synaptic pruning and cognitive impairment in epilepsy -
Microglia are the resident immune cells of the central nervous system, highly sensitive to oxidative stress and essential for maintaining synaptic homeostasis. While epilepsy induces profound redox imbalance, how oxidative stress reshapes microglial function and disrupts synaptic integrity remains unclear. Here we show that epileptic seizures drive early loss of ataxia-telangiectasia mutated (A...
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